A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587421



Internal ID16028144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:34352440..34531755hg38UCSC Ensembl
Innerchr21:35724739..35904053hg19UCSC Ensembl
Innerchr21:34646609..34825923hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38179316
hg19179315
hg18179315
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7824n54
Supporting Variantsnssv946685
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)nsv587421
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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