A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv805443



Internal ID15752713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:131793985..132060098hg38UCSC Ensembl
Innerchr12:132278530..132544643hg19UCSC Ensembl
Innerchr12:130844483..131110596hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38266114
hg19266114
hg18266114
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv560928
Supporting Variants
Samples
Known GenesEP400, MMP17, PUS1, SFSWAP, SNORA49, ULK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv805443
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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