A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694247



Internal ID15430899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:44208093..44210725hg38UCSC Ensembl
Innerchr21:45627976..45630608hg19UCSC Ensembl
Innerchr21:44452404..44455036hg18UCSC Ensembl
Innerchr21:44452404..44455036hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg382633
hg192633
hg182633
hg172633
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv518543
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694247
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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