A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1175480



Internal ID15874296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:63507370..63725405hg38UCSC Ensembl
Innerchr12:63901150..64119185hg19UCSC Ensembl
Innerchr12:62187417..62405452hg18UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg38218036
hg19218036
hg18218036
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv559163
Supporting Variants
SamplesHGDP00520
Known GenesDPY19L2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1175480
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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