A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560834



Internal ID16348243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:131378051..131692898hg38UCSC Ensembl
Innerchr12:131862596..132177443hg19UCSC Ensembl
Innerchr12:130428549..130743396hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38314848
hg19314848
hg18314848
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2990n54
Supporting Variantsnssv804693
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560834
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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