A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558193



Internal ID16345602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:33136887..33156863hg38UCSC Ensembl
Innerchr12:33289821..33309797hg19UCSC Ensembl
Innerchr12:33181088..33201064hg18UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg3819977
hg1919977
hg1819977
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2492n54
Supporting Variantsnssv791939
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558193
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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