A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv946687



Internal ID15893957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:34353352..34528992hg38UCSC Ensembl
Innerchr21:35725651..35901290hg19UCSC Ensembl
Innerchr21:34647521..34823160hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38175641
hg19175640
hg18175640
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv587423
Supporting Variants
Samples
Known GenesC21orf140, KCNE1, KCNE2, RCAN1, SMIM11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv946687
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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