A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv794337



Internal ID15741607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:43608465..43739125hg38UCSC Ensembl
Innerchr12:44002268..44132928hg19UCSC Ensembl
Innerchr12:42288535..42419195hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38130661
hg19130661
hg18130661
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv558750
Supporting Variants
Samples
Known GenesPUS7L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv794337
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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