A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv695922



Internal ID15432574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:54178155..54225774hg38UCSC Ensembl
Innerchr3:54212182..54259801hg19UCSC Ensembl
Innerchr3:54187222..54234841hg18UCSC Ensembl
Innerchr3:54187222..54234841hg17UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3847620
hg1947620
hg1847620
hg1747620
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv518483
Supporting Variants
Samples
Known GenesCACNA2D3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv695922
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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