A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv696607



Internal ID15086573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:113243454..113245312hg38UCSC Ensembl
Innerchr12:113681259..113683117hg19UCSC Ensembl
Innerchr12:112165642..112167500hg18UCSC Ensembl
Innerchr12:112143979..112145837hg17UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg381859
hg191859
hg181859
hg171859
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519540
Supporting Variants
Samples
Known GenesTPCN1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv696607
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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