A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523863



Internal ID15104470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:216344293..216456074hg38UCSC Ensembl
Innerchr1:216517635..216629416hg19UCSC Ensembl
Innerchr1:214584258..214696039hg18UCSC Ensembl
Innerchr1:212906030..213017811hg17UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38111782
hg19111782
hg18111782
hg17111782
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv699700
Samples
Known GenesUSH2A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523863
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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