A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558191



Internal ID16345600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:33136887..33153378hg38UCSC Ensembl
Innerchr12:33289821..33306312hg19UCSC Ensembl
Innerchr12:33181088..33197579hg18UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg3816492
hg1916492
hg1816492
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2492n54
Supporting Variantsnssv791937
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558191
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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