A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv697306



Internal ID15433958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:43407783..43443044hg38UCSC Ensembl
Innerchr2:43634922..43670183hg19UCSC Ensembl
Innerchr2:43488426..43523687hg18UCSC Ensembl
Innerchr2:43546573..43581834hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3835262
hg1935262
hg1835262
hg1735262
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520247
Supporting Variants
Samples
Known GenesTHADA
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv697306
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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