A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv688328



Internal ID15424980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:25121659..25188243hg38UCSC Ensembl
Innerchr12:25274593..25341177hg19UCSC Ensembl
Innerchr12:25165860..25232444hg18UCSC Ensembl
Innerchr12:25165860..25232444hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3866585
hg1966585
hg1866585
hg1766585
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515612
Supporting Variants
Samples
Known GenesCASC1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv688328
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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