A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1038912



Internal ID19128131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:41930312..42030158hg38UCSC Ensembl
Innerchr13:42504448..42604294hg19UCSC Ensembl
Innerchr13:41402448..41502294hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3899847
hg1999847
hg1899847
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3714967
Samples
Known GenesVWA8, VWA8-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1038912
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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