A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv697200



Internal ID15087166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1401474..1404855hg38UCSC Ensembl
Innerchr12:1510640..1514021hg19UCSC Ensembl
Innerchr12:1380901..1384282hg18UCSC Ensembl
Innerchr12:1380901..1384282hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg383382
hg193382
hg183382
hg173382
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520059
Supporting Variants
Samples
Known GenesERC1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv697200
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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