A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700952



Internal ID15437604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:118186931..118302870hg38UCSC Ensembl
Innerchr12:118624736..118740675hg19UCSC Ensembl
Innerchr12:117109119..117225058hg18UCSC Ensembl
Innerchr12:117087456..117203395hg17UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg38115940
hg19115940
hg18115940
hg17115940
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524938
Supporting Variants
Samples
Known GenesTAOK3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700952
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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