A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv442698

Internal ID15154731
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:34408482..34538187hg38UCSC Ensembl
Innerchr15:34700683..34830388hg19UCSC Ensembl
Innerchr15:32487975..32617680hg18UCSC Ensembl
Innerchr15:32487975..32617680hg17UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1647744, nssv1647759, nssv1647722, nssv1647727, nssv1647768, nssv1647767, nssv1647779, nssv1647756, nssv1647761, nssv1647730, nssv1647772, nssv1647739, nssv1647725, nssv1647766, nssv1647741, nssv1647729, nssv1647764, nssv1647773, nssv1647742, nssv1647752, nssv1647751, nssv1647781, nssv1647776, nssv1647737, nssv1647733, nssv1647769, nssv1647777, nssv1647758, nssv1647754, nssv1647735, nssv1647749, nssv1647734, nssv1647763, nssv1647778, nssv1647755, nssv1647728, nssv1647753, nssv1647770, nssv1647775, nssv1647738, nssv1647723, nssv1647774, nssv1647724, nssv1647747, nssv1647726, nssv1647745, nssv1647765, nssv1647780, nssv1647732, nssv1647731, nssv1647740, nssv1647750, nssv1647746, nssv1647757, nssv1647748, nssv1647762, nssv1647760, nssv1647736, nssv1647743, nssv1647771
SamplesNA18964, NA18863, NA18861, NA18951, NA18914, NA18523, NA18975, NA19173, NA19209, NA18501, NA19093, NA18500, NA18526, NA12815, NA19203, NA18521, NA18953, NA19144, NA10855, NA18860, NA18912, NA19239, NA12056, NA18635, NA18960, NA18991, NA18592, NA18856, NA07048, NA18956, NA18609, NA11831, NA18637, NA12716, NA18620, NA12892, NA19094, NA18968, NA18522, NA19238, NA19005, NA18502, NA18858, NA18945, NA18940, NA19145, NA10851, NA18582, NA07055, NA19201, NA10835, NA07022, NA19205, NA12248, NA11829, NA19171, NA19204, NA18913, NA19007, NA19202
Known GenesGOLGA8A, GOLGA8B, MIR1233-1, MIR1233-2
MethodSNP array
AnalysisWe used two computational approaches to identify CNVs: the hidden Markov model Birdseye, and an approach based on correlation between nearby probes across a population sample. To maximize the quality of reported findings, we ran duplicate experiments in independent labs, and report the CNVs that were observed in both experiments, in the same samples and at essentially identical genomic locations.
Platform[GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array
Pubmed ID18776908
Accession Number(s)nsv442698
Sample Size270
Observed Gain8
Observed Loss52
Observed Complex0

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