A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587478



Internal ID16374887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:38871535..38903109hg38UCSC Ensembl
Innerchr21:40243459..40275033hg19UCSC Ensembl
Innerchr21:39165329..39196903hg18UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg3831575
hg1931575
hg1831575
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv946774
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587478
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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