A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558346



Internal ID16345755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:37464097..37751483hg38UCSC Ensembl
Innerchr12:37857899..38145285hg19UCSC Ensembl
Innerchr12:36144166..36431552hg18UCSC Ensembl
Cytoband12q11
Allele length
AssemblyAllele length
hg38287387
hg19287387
hg18287387
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2524n54
Supporting Variantsnssv793189
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558346
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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