A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1175479



Internal ID15875706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:63502401..63745991hg38UCSC Ensembl
Innerchr12:63896181..64139771hg19UCSC Ensembl
Innerchr12:62182448..62426038hg18UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg38243591
hg19243591
hg18243591
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv559161
Supporting Variants
SamplesHGDP00726
Known GenesDPY19L2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1175479
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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