A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699863



Internal ID15089829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:47316106..47362895hg38UCSC Ensembl
Innerchr2:47543245..47590034hg19UCSC Ensembl
Innerchr2:47396749..47443538hg18UCSC Ensembl
Innerchr2:47454896..47501685hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3846790
hg1946790
hg1846790
hg1746790
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524003
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699863
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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