A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv654116



Internal ID15390768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:64327440..64330751hg38UCSC Ensembl
Innerchr12:64721220..64724531hg19UCSC Ensembl
Innerchr12:63007487..63010798hg18UCSC Ensembl
Innerchr12:63007487..63010798hg17UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg383312
hg193312
hg183312
hg173312
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517246
Supporting Variants
Samples
Known GenesC12orf56
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv654116
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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