A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv696347



Internal ID15086313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:95035603..95062240hg38UCSC Ensembl
Innerchr12:95429379..95456016hg19UCSC Ensembl
Innerchr12:93953510..93980147hg18UCSC Ensembl
Innerchr12:93931847..93958484hg17UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3826638
hg1926638
hg1826638
hg1726638
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv518889
Supporting Variants
Samples
Known GenesNR2C1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv696347
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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