A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561538



Internal ID16002261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:40940324..41070586hg38UCSC Ensembl
Innerchr13:41514460..41644722hg19UCSC Ensembl
Innerchr13:40412460..40542722hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38130263
hg19130263
hg18130263
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv809837
Samples
Known GenesELF1, WBP4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561538
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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