A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558192



Internal ID16345601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:33136887..33155994hg38UCSC Ensembl
Innerchr12:33289821..33308928hg19UCSC Ensembl
Innerchr12:33181088..33200195hg18UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg3819108
hg1919108
hg1819108
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2492n54
Supporting Variantsnssv791938
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558192
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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