A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699494



Internal ID15436146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:34020438..34122913hg38UCSC Ensembl
Innerchr2:34245505..34347980hg19UCSC Ensembl
Innerchr2:34099009..34201484hg18UCSC Ensembl
Innerchr2:34157156..34259631hg17UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38102476
hg19102476
hg18102476
hg17102476
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv523688
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699494
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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