A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1176418



Internal ID15527417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:66979769..67457145hg38UCSC Ensembl
Innerchr12:67373549..67850925hg19UCSC Ensembl
Innerchr12:65659816..66137192hg18UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg38477377
hg19477377
hg18477377
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv559212
Supporting Variants
SamplesHGDP00468
Known GenesCAND1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1176418
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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