A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694624



Internal ID15084590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:82620004..83597700hg38UCSC Ensembl
Innerchr12:83013783..83991479hg19UCSC Ensembl
Innerchr12:81537914..82515610hg18UCSC Ensembl
Innerchr12:81516251..82493947hg17UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38977697
hg19977697
hg18977697
hg17977697
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521849
Supporting Variants
Samples
Known GenesTMTC2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694624
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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