A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587472



Internal ID16028195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:37635934..37671917hg38UCSC Ensembl
Innerchr21:39008236..39044219hg19UCSC Ensembl
Innerchr21:37930106..37966089hg18UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg3835984
hg1935984
hg1835984
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv946768
Samples
Known GenesKCNJ6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587472
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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