A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559161



Internal ID16346570
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 StatusM
Merged Variantsdgv2675n54
Supporting Variantsnssv1175479
SamplesHGDP00726
Known GenesDPY19L2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559161
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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