A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv695490



Internal ID15432142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:183829587..183847992hg38UCSC Ensembl
Innerchr2:184694314..184712719hg19UCSC Ensembl
Innerchr2:184402559..184420964hg18UCSC Ensembl
Innerchr2:184519820..184538225hg17UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg3818406
hg1918406
hg1818406
hg1718406
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv518077
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv695490
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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