A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561557



Internal ID16348966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:42842522..42922099hg38UCSC Ensembl
Innerchr13:43416658..43496235hg19UCSC Ensembl
Innerchr13:42314658..42394235hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3879578
hg1979578
hg1879578
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175929
Samples1780862532_A
Known GenesEPSTI1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561557
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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