A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561588



Internal ID16348997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:47369694..47615971hg38UCSC Ensembl
Innerchr13:47943829..48190106hg19UCSC Ensembl
Innerchr13:46841830..47088107hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38246278
hg19246278
hg18246278
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175938
SamplesHGDP00791
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561588
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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