A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561400



Internal ID16002123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:31297526..31682595hg38UCSC Ensembl
Innerchr13:31871663..32256732hg19UCSC Ensembl
Innerchr13:30769663..31154732hg18UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38385070
hg19385070
hg18385070
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv807249
Samples
Known GenesB3GALTL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561400
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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