A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521237



Internal ID15448530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:25506528..25510023hg38UCSC Ensembl
Innerchr13:26080666..26084161hg19UCSC Ensembl
Innerchr13:24978666..24982161hg18UCSC Ensembl
Innerchr13:24978666..24982161hg17UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg383496
hg193496
hg183496
hg173496
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv687130, nssv689377
Samples
Known GenesATP8A2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521237
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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