Length (hg19) : 2,903,920 bases - Length (hg38) : 2,537,144 bases















CNV-Hub AChro-Puce
Pathogenic
AChro-Puce Criteria taken into account 1
2 Minor
4 Major
4 Major
4 Minor
4 Minor
4 Minor
5
ISV 2
XCNV 3
ClassifyCNV ACMG 4
AnnotSV ACMG 5
ACMG criteria
ClassifyCNV
2A
+
1
2H
+
0.15
3C
+
0.9
AnnotSV
2A
+
1
3C
+
0.9
Microdeletion syndromes
70 % OverlapsName | Start | End | Overlaps | Link |
---|---|---|---|---|
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) | 19022279 | 21098156 |
Coverage of CNV on syndrome : 83 % |
Decipher |
DIGEORGE SYNDROME; DGS | 19022279 | 21098156 |
Coverage of CNV on syndrome : 83 % |
DecipherGenomics |
Diseases :
Gene | Disease | Source | Inheritance |
---|---|---|---|
HIRA | 22q11.2 deletion syndrome | Orphanet | Autosomal dominant |
UFD1 | 22q11.2 deletion syndrome | Orphanet | Autosomal dominant |
TBX1 | 22q11.2 deletion syndrome | Orphanet | Autosomal dominant |
ARVCF | 22q11.2 deletion syndrome | Orphanet | Autosomal dominant |
CRKL | Distal 22q11.2 microdeletion syndrome | Orphanet | Autosomal dominant |
LZTR1 | Schwannomatosis | Orphanet | Autosomal dominant |
SLC25A1 | Presynaptic congenital myasthenic syndromes | Orphanet | Autosomal dominant, Autosomal recessive |
CDC45 | Ear-patella-short stature syndrome | Orphanet | Autosomal dominant, Autosomal recessive |
PRODH | Hyperprolinemia type 1 | Orphanet | Autosomal recessive |
CLTCL1 | Congenital insensitivity to pain with severe intellectual disability | Orphanet | Autosomal recessive |
TXNRD2 | Familial glucocorticoid deficiency | Orphanet | Autosomal recessive |
SCARF2 | Van den Ende-Gupta syndrome | Orphanet | Autosomal recessive |
SNAP29 | CEDNIK syndrome | Orphanet | Autosomal recessive |
GP1BB | Fetal and neonatal alloimmune thrombocytopenia | Orphanet | Not applicable |
CLDN5 | cldn5-related neurodevelopmental disorder | DDG2P | |
TANGO2 | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | Orphanet | |
PI4KA | Bilateral perisylvian polymicrogyria | Orphanet |
ClinGen
0 benign CNV0 likely benign CNV
0 uncertain CNV
4 likely pathogenic CNV
172 pathogenic CNV
70% Overlaps
Decipher
0 benign CNV118 unknown CNV
11 uncertain CNV
118 pathogenic CNV
70% Overlaps
DGV-Gold
0
80% Overlaps
0
50% Overlaps
DGV
0
80% Overlaps
1
50% Overlaps
Coe & Al study 6
17
Patient cases
70% Overlaps
0
Controls
70% Overlaps
Genes in OMIM
45
Sources and references
1 : AChroPuce Consortium Recommandations pour l’interpretation Clinique des CNV (Copy Number Variations) Septembre 2022.
2 : Automated prediction of the clinical impact of structural copy number variations : M. Gažiová, T. Sládeček, O. Pös, M. Števko, W. Krampl, Z. Pös, R. Hekel, M. Hlavačka, M. Kucharík, J. Radvánszky, J. Budiš & T. Szemes View article
3 : Zhang L, Shi J, Ouyang J, Zhang R, Tao Y, Yuan D, et al X CNV genome wide prediction of the pathogenicity of copy number variations Genome Med 2021 13 132.
4 : Gurbich, T.A., Ilinsky, V.V. ClassifyCNV: a tool for clinical annotation of copy-number variants. Sci Rep 10, 20375 (2020). View article
5 : Geoffroy V, Herenger Y, Kress A, et al. AnnotSV: an integrated tool for structural variations annotation. Bioinforma Oxf Engl. 2018;34(20):3572-3574. doi:10.1093/bioinformatics/bty304
6 : Coe BP, Witherspoon K, Rosenfeld JA, van Bon BWM, Vulto van Silfhout AT, Bosco P, et al Refining analyses of copy number variation identifies specific genes associated with developmental delay Nat Genet 2014 46 1063 71
7 : Collins RL, Glessner JT, Porcu E, Lepamets M, Brandon R, Lauricella C, et al A cross disorder dosage sensitivity map of the human genome Cell 2022 185 3041 3055 e 25
2 Microdeletion and microduplication syndromes from litterature (>= 70% only)
DGS/VCFS AC (22q11.2)
Location : 18,832,752 - 21,047,287
| Size : 2,214,535 bases
Cases :
Burnside_2015
Morrow_2018
DGS/VCFS AD (22q11.2)
Location : 18,912,231 - 21,465,672
| Size : 2,553,441 bases
Cases :
Gottlieb_1998
McDermid_2002
Kaminsky_2011
Burnside_2015
Morrow_2018
45 OMIM Gene overlap(s)
Download genes as .csv
Location : 21,061,979 - 21,213,705
Disease : Bilateral perisylvian polymicrogyria
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:600286 Orphanet:98889 HGNC:8983 PMID:25855803 GTEx Portal Human Protein Atlas Ensembl
Location : 19,318,221 - 19,434,973
Disease : 22q11.2 deletion syndrome
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:600237 Orphanet:567 HGNC:4916 PMID:15177686 GTEx Portal Human Protein Atlas Ensembl
Location : 19,166,986 - 19,279,242
Disease : Congenital insensitivity to pain with severe intellectual disability
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:601273 Orphanet:453510 HGNC:2093 PMID:26068709 GTEx Portal Human Protein Atlas Ensembl
SFARI (Autism Database) :
Location : 20,850,200 - 20,941,919
Database :
DecipherGenomics OMIM:607372 GTEx Portal Human Protein Atlas Ensembl
Location : 19,023,795 - 19,109,967
Database :
DecipherGenomics OMIM:600594 GTEx Portal Human Protein Atlas Ensembl
Location : 19,770,746 - 19,842,462
Database :
DecipherGenomics PanelApp OMIM:610778 GTEx Portal Human Protein Atlas Ensembl
SFARI (Autism Database) :
Location : 19,863,040 - 19,929,343
Disease : Familial glucocorticoid deficiency
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:606448 Orphanet:361 HGNC:18155 PMID:24601690 GTEx Portal Human Protein Atlas Ensembl
Location : 18,957,952 - 19,018,755
Database :
DecipherGenomics OMIM:618040 GTEx Portal Human Protein Atlas Ensembl
Location : 20,795,806 - 20,850,131
Database :
DecipherGenomics OMIM:618020 GTEx Portal Human Protein Atlas Ensembl
Location : 20,004,537 - 20,054,687
Disease : Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:616830 Orphanet:480864 HGNC:25439 PMID:26805782 GTEx Portal Human Protein Atlas Ensembl
Location : 19,957,419 - 20,004,346
Disease : 22q11.2 deletion syndrome
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:602269 Orphanet:567 HGNC:728 GTEx Portal Human Protein Atlas Ensembl
Location : 20,228,938 - 20,270,769
Database :
DecipherGenomics OMIM:605566 GTEx Portal Human Protein Atlas Ensembl
Location : 19,466,980 - 19,508,135
Disease : Ear-patella-short stature syndrome
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:603465 Orphanet:2554 HGNC:1739 PMID:27374770 GTEx Portal Human Protein Atlas Ensembl
Location : 21,271,695 - 21,308,035
Disease : Distal 22q11.2 microdeletion syndrome
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:602007 Orphanet:261330 HGNC:2363 GTEx Portal Human Protein Atlas Ensembl
Location : 21,771,660 - 21,805,752
Database :
DecipherGenomics OMIM:607712 GTEx Portal Human Protein Atlas Ensembl
Location : 21,213,295 - 21,245,502
Disease : CEDNIK syndrome
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:604202 Orphanet:66631 HGNC:11133 PMID:15968592 PMID:2107345 GTEx Portal Human Protein Atlas Ensembl
Location : 20,067,744 - 20,099,400
Database :
DecipherGenomics PanelApp OMIM:609030 GTEx Portal Human Protein Atlas Ensembl
Location : 19,437,434 - 19,466,725
Disease : 22q11.2 deletion syndrome
Source : Orphanet
Database :
DecipherGenomics OMIM:601754 Orphanet:567 HGNC:12520 GTEx Portal Human Protein Atlas Ensembl
Location : 19,744,226 - 19,771,116
Disease : 22q11.2 deletion syndrome
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:602054 Orphanet:567 HGNC:11592 GTEx Portal Human Protein Atlas Ensembl
SFARI (Autism Database) :
Location : 18,900,290 - 18,924,066
Disease : Hyperprolinemia type 1
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:606810 Orphanet:419 HGNC:9453 PMID:20524212 PMID:234626 GTEx Portal Human Protein Atlas Ensembl
SFARI (Autism Database) :
Location : 20,116,979 - 20,135,530
Database :
DecipherGenomics OMIM:608784 GTEx Portal Human Protein Atlas Ensembl
Location : 21,364,097 - 21,382,302
Database :
DecipherGenomics OMIM:608077 GTEx Portal Human Protein Atlas Ensembl
Location : 21,562,262 - 21,579,843
Database :
DecipherGenomics OMIM:137181 GTEx Portal Human Protein Atlas Ensembl
Location : 21,336,558 - 21,353,321
Disease : Schwannomatosis
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:600574 Orphanet:93921 HGNC:6742 PMID:24362817 GTEx Portal Human Protein Atlas Ensembl
SFARI (Autism Database) :
Location : 21,319,396 - 21,335,649
Database :
DecipherGenomics OMIM:617298 GTEx Portal Human Protein Atlas Ensembl
Location : 19,117,792 - 19,132,197
Database :
DecipherGenomics OMIM:601755 GTEx Portal Human Protein Atlas Ensembl
Location : 20,748,405 - 20,762,751
Database :
DecipherGenomics OMIM:194548 GTEx Portal Human Protein Atlas Ensembl
Location : 21,128,401 - 21,142,008
Database :
DecipherGenomics PanelApp OMIM:142360 GTEx Portal Human Protein Atlas Ensembl
Location : 20,778,874 - 20,792,113
Disease : Van den Ende-Gupta syndrome
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:613619 Orphanet:2460 HGNC:19869 PMID:20887961 PMID:2214038 GTEx Portal Human Protein Atlas Ensembl
Location : 20,103,461 - 20,114,878
Database :
DecipherGenomics OMIM:601180 GTEx Portal Human Protein Atlas Ensembl
Location : 19,702,026 - 19,711,747
Database :
DecipherGenomics OMIM:602724 GTEx Portal Human Protein Atlas Ensembl
Location : 18,893,541 - 18,901,751
Database :
DecipherGenomics OMIM:601279 GTEx Portal Human Protein Atlas Ensembl
Location : 20,455,682 - 20,461,786
Database :
DecipherGenomics OMIM:612699 GTEx Portal Human Protein Atlas Ensembl
Location : 20,301,761 - 20,307,603
Database :
DecipherGenomics OMIM:609459 GTEx Portal Human Protein Atlas Ensembl
Location : 21,738,040 - 21,743,767
Database :
DecipherGenomics OMIM:612700 GTEx Portal Human Protein Atlas Ensembl
Location : 20,099,398 - 20,104,915
Database :
DecipherGenomics OMIM:611151 GTEx Portal Human Protein Atlas Ensembl
Location : 19,510,547 - 19,515,068
Disease : cldn5-related neurodevelopmental disorder
Source : DDG2P
Database :
DecipherGenomics PanelApp OMIM:602101 GTEx Portal Human Protein Atlas Ensembl
Location : 21,383,007 - 21,387,129
Database :
DecipherGenomics OMIM:603752 GTEx Portal Human Protein Atlas Ensembl
Location : 19,420,068 - 19,423,598
Database :
DecipherGenomics PanelApp OMIM:605089 GTEx Portal Human Protein Atlas Ensembl
Location : 19,134,506 - 19,137,805
Database :
DecipherGenomics OMIM:601845 GTEx Portal Human Protein Atlas Ensembl
Location : 19,163,094 - 19,166,252
Disease : Presynaptic congenital myasthenic syndromes
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:190315 Orphanet:98914 HGNC:10979 GTEx Portal Human Protein Atlas Ensembl
Location : 21,353,393 - 21,356,485
Database :
DecipherGenomics OMIM:609518 GTEx Portal Human Protein Atlas Ensembl
Location : 20,366,211 - 20,368,028
Database :
DecipherGenomics OMIM:612340 GTEx Portal Human Protein Atlas Ensembl
Location : 19,118,821 - 19,120,135
Database :
DecipherGenomics OMIM:610710 GTEx Portal Human Protein Atlas Ensembl
Location : 19,711,062 - 19,712,294
Disease : Fetal and neonatal alloimmune thrombocytopenia
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:138720 Orphanet:853 HGNC:4440 GTEx Portal Human Protein Atlas Ensembl
142 Non-OMIM Gene overlap(s)
C22orf39
Size : 96,343 bases
Location : 19,338,891 - 19,435,234
ENSG00000290983
Size : 74,844 bases
Location : 21,562,427 - 21,637,271
ENSG00000283809
Size : 41,494 bases
Location : 18,893,751 - 18,935,245
ENSG00000287146
Size : 36,932 bases
Location : 19,279,492 - 19,316,424
PI4KAP1
Size : 44,322 bases
Location : 20,383,513 - 20,427,835
ENSG00000290981
Size : 40,684 bases
Location : 20,970,517 - 21,011,201
COMT
Size : 28,604 bases
Location : 19,928,894 - 19,957,498
NOVEL
Size : 24,129 bases
Location : 20,326,328 - 20,350,457
NOVEL
Size : 29,384 bases
Location : 20,632,023 - 20,661,407
KNOWN
Size : 24,500 bases
Location : 20,692,438 - 20,716,938
ENSG00000290950
Size : 22,118 bases
Location : 20,704,868 - 20,726,986
SMPD4P1
Size : 23,539 bases
Location : 20,956,882 - 20,980,421
ENSG00000291240
Size : 24,325 bases
Location : 21,362,536 - 21,386,861
FAM230B
Size : 24,398 bases
Location : 21,522,047 - 21,546,445
FAM230H
Size : 24,052 bases
Location : 21,655,279 - 21,679,331
ENSG00000284294
Size : 11,330 bases
Location : 18,923,924 - 18,935,254
ENSG00000280418
Size : 7,578 bases
Location : 18,939,447 - 18,947,025
CELSR1P1
Size : 8,665 bases
Location : 18,973,349 - 18,982,014
ENSG00000284874
Size : 7,552 bases
Location : 19,704,743 - 19,712,295
RTL10
Size : 8,758 bases
Location : 19,833,661 - 19,842,419
ENSG00000289960
Size : 12,447 bases
Location : 19,842,495 - 19,854,942
ENSG00000236540
Size : 12,539 bases
Location : 20,045,553 - 20,058,092
PRODHLP
Size : 13,456 bases
Location : 20,287,283 - 20,300,739
FAM247B
Size : 10,393 bases
Location : 20,351,661 - 20,362,054
PI4KAP1
Size : 14,793 bases
Location : 20,383,872 - 20,398,665
ENSG00000288811
Size : 11,078 bases
Location : 20,620,244 - 20,631,322
USP41
Size : 13,630 bases
Location : 20,717,911 - 20,731,541
ENSG00000277971
Size : 17,379 bases
Location : 20,783,528 - 20,800,907
POM121L4P
Size : 9,009 bases
Location : 21,044,217 - 21,053,226
LINC01637
Size : 7,590 bases
Location : 21,311,380 - 21,318,970
ENSG00000285314
Size : 18,659 bases
Location : 21,333,751 - 21,352,410
THAP7-AS1
Size : 8,456 bases
Location : 21,356,175 - 21,364,631
ENSG00000226872
Size : 12,763 bases
Location : 21,385,643 - 21,398,406
ENSG00000290799
Size : 9,769 bases
Location : 21,389,532 - 21,399,301
LRRC74B
Size : 18,222 bases
Location : 21,400,235 - 21,418,457
ENSG00000284665
Size : 9,936 bases
Location : 21,425,371 - 21,435,307
ENSG00000291044
Size : 19,302 bases
Location : 21,457,273 - 21,476,575
ENSG00000197210
Size : 9,844 bases
Location : 21,468,896 - 21,478,740
ENSG00000290961
Size : 10,395 bases
Location : 21,547,649 - 21,558,044
ENSG00000283583
Size : 630 bases
Location : 18,968,208 - 18,968,838
ENSG00000271275
Size : 457 bases
Location : 18,984,651 - 18,985,108
ENSG00000283366
Size : 153 bases
Location : 19,001,866 - 19,002,019
ENSG00000270393
Size : 873 bases
Location : 19,005,556 - 19,006,429
FAM246C
Size : 1,718 bases
Location : 19,017,037 - 19,018,755
CA15P1
Size : 3,000 bases
Location : 19,019,077 - 19,022,077
NOVEL
Size : 111 bases
Location : 19,032,769 - 19,032,880
DGCR11
Size : 2,213 bases
Location : 19,033,675 - 19,035,888
ENSG00000237347
Size : 711 bases
Location : 19,043,314 - 19,044,025
ENSG00000281530
Size : 802 bases
Location : 19,048,554 - 19,049,356
ENSG00000223461
Size : 2,974 bases
Location : 19,109,042 - 19,112,016
ENSG00000272682
Size : 4,140 bases
Location : 19,111,822 - 19,115,962
TSSK1A
Size : 767 bases
Location : 19,112,392 - 19,113,159
ENSG00000289481
Size : 798 bases
Location : 19,158,329 - 19,159,127
LINC01311
Size : 1,456 bases
Location : 19,158,908 - 19,160,364
ENSG00000286367
Size : 3,681 bases
Location : 19,183,913 - 19,187,594
ENSG00000230194
Size : 296 bases
Location : 19,225,966 - 19,226,262
NOVEL
Size : 93 bases
Location : 19,237,396 - 19,237,489
KRT18P62
Size : 1,286 bases
Location : 19,245,043 - 19,246,329
KNOWN
Size : 276 bases
Location : 19,353,289 - 19,353,565
UFD1-AS1
Size : 2,212 bases
Location : 19,435,416 - 19,437,628
ENSG00000273300
Size : 426 bases
Location : 19,441,702 - 19,442,128
ENSG00000273212
Size : 459 bases
Location : 19,444,026 - 19,444,485
ENSG00000287652
Size : 2,197 bases
Location : 19,508,095 - 19,510,292
LINC00895
Size : 1,636 bases
Location : 19,552,726 - 19,554,362
ENSG00000230485
Size : 2,824 bases
Location : 19,618,273 - 19,621,097
ENSG00000225007
Size : 532 bases
Location : 19,654,546 - 19,655,078
RPL7AP70
Size : 800 bases
Location : 19,779,817 - 19,780,617
ENSG00000232926
Size : 681 bases
Location : 19,874,812 - 19,875,493
ENSG00000289946
Size : 5,837 bases
Location : 19,921,184 - 19,927,021
KNOWN
Size : 81 bases
Location : 19,951,276 - 19,951,357
KNOWN
Size : 81 bases
Location : 20,020,662 - 20,020,743
ENSG00000268292
Size : 1,153 bases
Location : 20,052,075 - 20,053,228
KNOWN
Size : 87 bases
Location : 20,073,269 - 20,073,356
KNOWN
Size : 84 bases
Location : 20,073,581 - 20,073,665
ENSG00000243762
Size : 1,054 bases
Location : 20,098,344 - 20,099,398
NOVEL
Size : 124 bases
Location : 20,113,925 - 20,114,049
CCDC188
Size : 2,639 bases
Location : 20,135,939 - 20,138,578
LINC02891
Size : 6,189 bases
Location : 20,186,252 - 20,192,441
LINC00896
Size : 2,144 bases
Location : 20,193,903 - 20,196,047
KNOWN
Size : 77 bases
Location : 20,236,657 - 20,236,734
ENSG00000273343
Size : 630 bases
Location : 20,305,642 - 20,306,272
ENSG00000273139
Size : 1,104 bases
Location : 20,307,627 - 20,308,731
ENSG00000235578
Size : 1,162 bases
Location : 20,330,726 - 20,331,888
ENSG00000277017
Size : 4,248 bases
Location : 20,336,866 - 20,341,114
TMEM191B
Size : 2,771 bases
Location : 20,377,669 - 20,380,440
NOVEL
Size : 76 bases
Location : 20,434,077 - 20,434,153
NOVEL
Size : 142 bases
Location : 20,455,222 - 20,455,364
NOVEL
Size : 82 bases
Location : 20,455,450 - 20,455,532
KNOWN
Size : 300 bases
Location : 20,455,669 - 20,455,969
SUSD2P2
Size : 1,950 bases
Location : 20,473,206 - 20,475,156
FAM246B
Size : 698 bases
Location : 20,483,851 - 20,484,549
CA15P2
Size : 1,960 bases
Location : 20,486,312 - 20,488,272
PPP1R26P2
Size : 3,594 bases
Location : 20,499,890 - 20,503,484
GGTLC5P
Size : 5,754 bases
Location : 20,610,447 - 20,616,201
NOVEL
Size : 1,583 bases
Location : 20,644,408 - 20,645,991
PPP1R26P3
Size : 3,799 bases
Location : 20,670,709 - 20,674,508
ENSG00000287446
Size : 5,629 bases
Location : 20,703,048 - 20,708,677
KNOWN
Size : 102 bases
Location : 20,771,087 - 20,771,189
ENSG00000215493
Size : 1,702 bases
Location : 20,804,409 - 20,806,111
NOVEL
Size : 108 bases
Location : 20,829,490 - 20,829,598
NOVEL
Size : 110 bases
Location : 20,835,445 - 20,835,555
KNOWN
Size : 273 bases
Location : 20,836,224 - 20,836,497
KRT18P5
Size : 1,290 bases
Location : 20,837,102 - 20,838,392
NOVEL
Size : 91 bases
Location : 20,837,512 - 20,837,603
ENSG00000236003
Size : 1,800 bases
Location : 20,876,357 - 20,878,157
CCDC74BP1
Size : 4,722 bases
Location : 20,941,783 - 20,946,505
IGLL4P
Size : 132 bases
Location : 20,986,906 - 20,987,038
SLC9A3P2
Size : 2,020 bases
Location : 21,007,017 - 21,009,037
NOVEL
Size : 81 bases
Location : 21,011,322 - 21,011,403
ABHD17AP4
Size : 3,148 bases
Location : 21,022,124 - 21,025,272
ENSG00000290982
Size : 1,286 bases
Location : 21,044,319 - 21,045,605
BCRP5
Size : 972 bases
Location : 21,052,250 - 21,053,222
TMEM191A
Size : 3,492 bases
Location : 21,055,402 - 21,058,894
TMEM191A
Size : 2,483 bases
Location : 21,056,295 - 21,058,778
NOVEL
Size : 2,873 bases
Location : 21,077,335 - 21,080,208
ENSG00000272600
Size : 2,008 bases
Location : 21,243,494 - 21,245,502
KNOWN
Size : 265 bases
Location : 21,309,449 - 21,309,714
ENSG00000272829
Size : 882 bases
Location : 21,335,640 - 21,336,522
ENSG00000284060
Size : 6,558 bases
Location : 21,357,184 - 21,363,742
NOVEL
Size : 2,706 bases
Location : 21,358,030 - 21,360,736
TUBA3FP
Size : 6,099 bases
Location : 21,362,482 - 21,368,581
KNOWN
Size : 96 bases
Location : 21,388,465 - 21,388,561
P2RX6P
Size : 2,674 bases
Location : 21,396,632 - 21,399,306
TUBA3GP
Size : 4,635 bases
Location : 21,419,751 - 21,424,386
BCRP2
Size : 3,829 bases
Location : 21,470,218 - 21,474,047
POM121L7P
Size : 2,403 bases
Location : 21,479,949 - 21,482,352
E2F6P2
Size : 747 bases
Location : 21,495,913 - 21,496,660
ENSG00000234503
Size : 1,983 bases
Location : 21,532,181 - 21,534,164
FAM247A
Size : 177 bases
Location : 21,557,743 - 21,557,920
ENSG00000283145
Size : 378 bases
Location : 21,583,049 - 21,583,427
E2F6P3
Size : 742 bases
Location : 21,622,450 - 21,623,192
POM121L8P
Size : 1,280 bases
Location : 21,637,170 - 21,638,450
BCRP6
Size : 3,826 bases
Location : 21,645,049 - 21,648,875
ENSG00000237407
Size : 1,984 bases
Location : 21,667,209 - 21,669,193
PPP1R26P5
Size : 3,663 bases
Location : 21,695,884 - 21,699,547
LINC01651
Size : 3,504 bases
Location : 21,708,852 - 21,712,356
FAM246A
Size : 698 bases
Location : 21,714,890 - 21,715,588
ENSG00000226534
Size : 1,881 bases
Location : 21,724,353 - 21,726,234
KNOWN
Size : 300 bases
Location : 21,743,480 - 21,743,780
NOVEL
Size : 82 bases
Location : 21,743,917 - 21,743,999
NOVEL
Size : 142 bases
Location : 21,744,085 - 21,744,227
NOVEL
Size : 76 bases
Location : 21,765,339 - 21,765,415
176 ClinGen CNV overlap(s) (>= 70% only)
0 Benign CNV 0 Likely benign CNV 0 Uncertain CNV 4 Likely pathogenic CNV 172 Pathogenic CNV
#1 Pathogenic (22q11.21)
Location : 18,886,914 - 21,811,991 |
Size : 2,925,077 bases
Score : 1
#2 Pathogenic (nssv582145)
Location : 18,891,525 - 21,796,215 |
Size : 2,904,690 bases
Score : 0
#3 Pathogenic (22q11.21)
Location : 18,900,754 - 21,800,277 |
Size : 2,899,523 bases
Score : 1
Phenotype :
DiGeorge syndrome
#4 Pathogenic (22q11.21)
Location : 18,916,827 - 21,800,797 |
Size : 2,883,970 bases
Score : 1
#5 Pathogenic (22q11.21)
Location : 18,916,841 - 21,798,907 |
Size : 2,882,066 bases
Score : 0
Phenotype :
DiGeorge syndrome
#6 Pathogenic (22q11.21)
Location : 18,916,841 - 21,798,907 |
Size : 2,882,066 bases
Score : 0
#7 Pathogenic (nssv13649789)
Location : 18,916,841 - 21,804,716 |
Size : 2,887,875 bases
Score : 0
#8 Pathogenic (nssv3396760)
Location : 18,916,841 - 21,804,886 |
Size : 2,888,045 bases
Score : 0
#9 Pathogenic (22q11.21)
Location : 18,916,842 - 21,800,471 |
Size : 2,883,629 bases
Score : 1
#10 Pathogenic (22q11.21)
Location : 18,919,476 - 21,800,471 |
Size : 2,880,995 bases
Score : 0
Phenotype :
Velocardiofacial syndrome,DiGeorge syndrome
#11 Pathogenic (22q11.21)
Location : 18,844,631 - 21,797,812 |
Size : 2,953,181 bases
Score : 1
#12 Pathogenic (nssv580005)
Location : 18,919,941 - 21,809,009 |
Size : 2,889,068 bases
Score : 1
#13 Pathogenic (22q11.21)
Location : 18,878,408 - 21,907,671 |
Size : 3,029,263 bases
Score : 0
#14 Pathogenic (22q11.21)
Location : 18,889,489 - 21,917,190 |
Size : 3,027,701 bases
Score : 1
#15 Pathogenic (22q11.21)
Location : 18,916,842 - 21,915,509 |
Size : 2,998,667 bases
Score : 1
#16 Pathogenic (nssv579989)
Location : 18,706,000 - 21,809,009 |
Size : 3,103,009 bases
Score : 1
#17 Pathogenic (22q11.21)
Location : 18,728,117 - 21,811,991 |
Size : 3,083,874 bases
Score : 0
#18 Pathogenic (22q11.21)
Location : 18,893,343 - 21,650,280 |
Size : 2,756,937 bases
Score : 0
Phenotype :
DiGeorge syndrome
#19 Pathogenic (22q11.21)
Location : 18,626,107 - 21,800,797 |
Size : 3,174,690 bases
Score : 0
#20 Pathogenic (22q11.21)
Location : 18,631,363 - 21,800,471 |
Size : 3,169,108 bases
Score : 0
Phenotype :
Velocardiofacial syndrome,DiGeorge syndrome
#21 Pathogenic (22q11.21)
Location : 18,636,748 - 21,800,471 |
Size : 3,163,723 bases
Score : 0
Phenotype :
Velocardiofacial syndrome,DiGeorge syndrome
#22 Pathogenic (22q11.21)
Location : 18,644,542 - 21,800,797 |
Size : 3,156,255 bases
Score : 1
#23 Pathogenic (22q11.21)
Location : 18,644,789 - 21,800,471 |
Size : 3,155,682 bases
Score : 0
Phenotype :
DiGeorge syndrome
#24 Pathogenic (22q11.21)
Location : 18,644,789 - 21,798,907 |
Size : 3,154,118 bases
Score : 0
Phenotype :
DiGeorge syndrome
#25 Pathogenic (22q11.21)
Location : 18,645,352 - 21,800,797 |
Size : 3,155,445 bases
Score : 0
Phenotype :
DiGeorge syndrome
#26 Pathogenic (22q11.21)
Location : 18,648,865 - 21,800,797 |
Size : 3,151,932 bases
Score : 0
#27 Pathogenic (22q11.21)
Location : 18,648,865 - 21,798,907 |
Size : 3,150,042 bases
Score : 0
Phenotype :
DiGeorge syndrome
#28 Pathogenic (nssv582649)
Location : 18,661,723 - 21,809,009 |
Size : 3,147,286 bases
Score : 0
#29 Pathogenic (22q11.21)
Location : 18,844,631 - 21,608,479 |
Size : 2,763,848 bases
Score : 0
#30 Likely pathogenic (del)
Location : 18,861,208 - 21,630,630 |
Size : 2,769,422 bases
Score : 1
Phenotype :
Megacolon
#31 Pathogenic (Single allele)
Location : 18,893,881 - 21,563,420 |
Size : 2,669,539 bases
Score : 1
Phenotype :
DiGeorge syndrome
#32 Pathogenic (Single allele)
Location : 18,893,881 - 21,571,027 |
Size : 2,677,146 bases
Score : 1
Phenotype :
DiGeorge syndrome
#33 Pathogenic (22q11.21)
Location : 18,893,887 - 21,570,386 |
Size : 2,676,499 bases
Score : 1
#34 Pathogenic (nssv575800)
Location : 18,894,834 - 21,561,514 |
Size : 2,666,680 bases
Score : 0
#35 Likely pathogenic (22q11.21)
Location : 18,655,797 - 21,726,191 |
Size : 3,070,394 bases
Score : 0
Phenotype :
Syndromic anorectal malformation
#36 Pathogenic (22q11.21)
Location : 18,660,134 - 21,737,597 |
Size : 3,077,463 bases
Score : 1
Phenotype :
Chromosome 22q11.2 deletion syndrome,distal
#37 Pathogenic (nssv582358)
Location : 18,765,084 - 21,661,435 |
Size : 2,896,351 bases
Score : 0
#38 Pathogenic (22q11.21)
Location : 18,765,101 - 21,661,435 |
Size : 2,896,334 bases
Score : 0
#39 Likely pathogenic (Single allele)
Location : 18,789,964 - 21,591,197 |
Size : 2,801,233 bases
Score : 1
Phenotype :
Inherited Immunodeficiency Diseases
#40 Pathogenic (Single allele)
Location : 18,890,263 - 21,540,347 |
Size : 2,650,084 bases
Score : 1
Phenotype :
Neurodevelopmental disorder
#41 Pathogenic (22q11.21)
Location : 18,894,834 - 21,505,417 |
Size : 2,610,583 bases
Score : 1
Phenotype :
14 conditions
#42 Pathogenic (nssv575807)
Location : 18,894,834 - 21,505,417 |
Size : 2,610,583 bases
Score : 0
#43 Pathogenic (nssv580035)
Location : 18,919,941 - 21,561,514 |
Size : 2,641,573 bases
Score : 2
#44 Pathogenic (nssv576777)
Location : 18,919,941 - 21,561,514 |
Size : 2,641,573 bases
Score : 0
#45 Pathogenic (22q11.21)
Location : 18,639,779 - 21,910,280 |
Size : 3,270,501 bases
Score : 0
Phenotype :
Syndromic anorectal malformation
#46 Pathogenic (22q11.21)
Location : 18,644,789 - 21,915,509 |
Size : 3,270,720 bases
Score : 0
#47 Pathogenic (22q11.21)
Location : 18,872,507 - 21,465,050 |
Size : 2,592,543 bases
Score : 0
#48 Pathogenic (22q11.21)
Location : 18,875,868 - 21,470,273 |
Size : 2,594,405 bases
Score : 0
#49 Pathogenic (22q11.21)
Location : 18,875,955 - 21,466,715 |
Size : 2,590,760 bases
Score : 0
#50 Pathogenic (nssv1610455)
Location : 18,876,629 - 21,465,659 |
Size : 2,589,030 bases
Score : 0
#51 Pathogenic (22q11.21)
Location : 18,878,408 - 21,465,050 |
Size : 2,586,642 bases
Score : 0
#52 Pathogenic (22q11.21)
Location : 18,884,513 - 21,484,289 |
Size : 2,599,776 bases
Score : 0
#53 Pathogenic (22q11.21)
Location : 18,884,713 - 21,483,289 |
Size : 2,598,576 bases
Score : 1
#54 Pathogenic (22q11.21)
Location : 18,886,914 - 21,467,387 |
Size : 2,580,473 bases
Score : 0
#55 Pathogenic (22q11.21)
Location : 18,886,914 - 21,465,050 |
Size : 2,578,136 bases
Score : 0
#56 Pathogenic (Single allele)
Location : 18,886,914 - 21,463,730 |
Size : 2,576,816 bases
Score : 0
Phenotype :
Intellectual disability
#57 Pathogenic (22q11.21)
Location : 18,886,914 - 21,463,730 |
Size : 2,576,816 bases
Score : 1