A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587425



Internal ID16028148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:34353430..34528992hg38UCSC Ensembl
Innerchr21:35725729..35901290hg19UCSC Ensembl
Innerchr21:34647599..34823160hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38175563
hg19175562
hg18175562
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7824n54
Supporting Variantsnssv946689
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)nsv587425
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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