A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561147



Internal ID16348556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:133107735..133202210hg38UCSC Ensembl
Innerchr12:133684321..133778796hg19UCSC Ensembl
Innerchr12:132194394..132288869hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3894476
hg1994476
hg1894476
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3060n54
Supporting Variantsnssv1175908
Samples1780862379_A
Known GenesZNF10, ZNF268, ZNF891
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561147
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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