Length (hg19) : 594,340 bases - Length (hg38) : -374,197 bases
CNV-Hub AChro-Puce
Likely benign
AChro-Puce Criteria taken into account 1
2 Major
2 Minor
2 Minor
ISV 2
XCNV 3
ClassifyCNV ACMG 4
AnnotSV ACMG 5
ACMG criteria
ClassifyCNV
4O
-1
AnnotSV
4O
-1
ClinGen
7 benign CNV0 likely benign CNV
0 uncertain CNV
0 likely pathogenic CNV
0 pathogenic CNV
70% Overlaps
Decipher
0 benign CNV0 unknown CNV
0 uncertain CNV
0 pathogenic CNV
70% Overlaps
DGV-Gold
1
80% Overlaps
0
50% Overlaps
DGV
1
80% Overlaps
2
50% Overlaps
Coe & Al study 6
1
Patient cases
70% Overlaps
22
Controls
70% Overlaps
Genes with pHaplo > 0.55 7
0
Genes with pTriplo > 0.68 7
0
Genes in SFARI
0
Genes in OMIM
2
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 OMIM Gene overlap(s)
Download genes as .csv
Location : 46,992,959 - 47,007,881
Database :
DecipherGenomics OMIM:611240 GTEx Portal Human Protein Atlas Ensembl
Location : 47,083,457 - 47,088,320
Database :
DecipherGenomics OMIM:601790 GTEx Portal Human Protein Atlas Ensembl
18 Non-OMIM Gene overlap(s)
NOVEL
Size : 162,265 bases
Location : 47,011,753 - 47,174,018
KNOWN
Size : 47,894 bases
Location : 47,191,844 - 47,239,738
KNOWN
Size : 40,985 bases
Location : 47,379,727 - 47,420,712
NOVEL
Size : 35,697 bases
Location : 47,207,805 - 47,243,502
KNOWN
Size : 16,110 bases
Location : 47,157,983 - 47,174,093
KNOWN
Size : 13,576 bases
Location : 47,228,366 - 47,241,942
NOVEL
Size : 10,760 bases
Location : 47,279,073 - 47,289,833
NPY4R2
Size : 4,863 bases
Location : 47,083,457 - 47,088,320
NOVEL
Size : 5,982 bases
Location : 47,186,203 - 47,192,185
ENSG00000273760
Size : 3,451 bases
Location : 47,135,135 - 47,138,586
KNOWN
Size : 4,477 bases
Location : 47,177,204 - 47,181,681
KNOWN
Size : 1,760 bases
Location : 47,254,247 - 47,256,007
HNRNPA1P33
Size : 560 bases
Location : 47,133,338 - 47,133,898
KNOWN
Size : 297 bases
Location : 47,174,442 - 47,174,739
KNOWN
Size : 115 bases
Location : 47,222,341 - 47,222,456
KNOWN
Size : 1,120 bases
Location : 47,271,222 - 47,272,342
KNOWN
Size : 283 bases
Location : 47,382,464 - 47,382,747
KNOWN
Size : 599 bases
Location : 47,396,223 - 47,396,822
7 ClinGen CNV overlap(s) (>= 70% only)
7 Benign CNV 0 Likely benign CNV 0 Uncertain CNV 0 Likely pathogenic CNV 0 Pathogenic CNV
#1 Benign (nssv706847)
Location : 46,984,912 - 47,590,979 |
Size : 606,067 bases
Score : 0
#2 Benign (nssv579542)
Location : 47,006,953 - 47,531,169 |
Size : 524,216 bases
Score : 1
#3 Benign (nssv575272)
Location : 46,984,912 - 47,655,146 |
Size : 670,234 bases
Score : 0
#4 Benign (nssv1603316)
Location : 46,951,228 - 47,768,540 |
Size : 817,312 bases
Score : 0
#5 Benign (nssv706710)
Location : 46,984,912 - 47,410,481 |
Size : 425,569 bases
Score : 0
#6 Benign (nssv584008)
Location : 46,951,228 - 47,410,481 |
Size : 459,253 bases
Score : 0
#7 Benign (nssv3397460)
Location : 47,006,953 - 47,323,674 |
Size : 316,721 bases
Score : 0
0 Decipher CNV overlap(s) (>= 70% only)
0 Benign CNV 0 Unknown CNV 0 Uncertain CNV 0 Pathogenic CNV
0 Gene(s) in SFARI Database
4 DGV-Gold overlap(s) (>= 50% only)
DGV-Gold #1
Location : 46,794,787 - 47,748,159
| Size : 953,372 bases
Frequency in Population : 0.26 %
Inner Rank : 12
DGV-Gold #2
Location : 46,998,307 - 47,587,348
| Size : 589,041 bases
Frequency in Population : 0.34 %
Inner Rank : 12
DGV-Gold #3
Location : 47,036,780 - 47,311,536
| Size : 274,756 bases
Frequency in Population : 0.58 %
Inner Rank : 16
DGV-Gold #4
Location : 47,236,543 - 47,461,104
| Size : 224,561 bases
Frequency in Population : 0.24 %
Inner Rank : 7