A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587422



Internal ID16028145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:34352440..34535115hg38UCSC Ensembl
Innerchr21:35724739..35907413hg19UCSC Ensembl
Innerchr21:34646609..34829283hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38182676
hg19182675
hg18182675
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7824n54
Supporting Variantsnssv946686
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)nsv587422
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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