A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561540



Internal ID16348949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:41833250..41995573hg38UCSC Ensembl
Innerchr13:42407386..42569709hg19UCSC Ensembl
Innerchr13:41305386..41467709hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38162324
hg19162324
hg18162324
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3127n54
Supporting Variantsnssv809838
Samples
Known GenesVWA8, VWA8-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561540
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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