A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560037



Internal ID16347446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:103299021..103424271hg38UCSC Ensembl
Innerchr12:103692799..103818049hg19UCSC Ensembl
Innerchr12:102216929..102342179hg18UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38125251
hg19125251
hg18125251
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv801789
Samples
Known GenesC12orf42
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560037
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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