A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519597



Internal ID15100204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:36735558..36749236hg38UCSC Ensembl
Innerchr21:38107859..38121537hg19UCSC Ensembl
Innerchr21:37029729..37043407hg18UCSC Ensembl
Innerchr21:37029729..37043407hg17UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg3813679
hg1913679
hg1813679
hg1713679
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv657005, nssv671528, nssv663734
Samples
Known GenesSIM2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519597
Frequency
Sample Size2026
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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