A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559373



Internal ID16346782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:73291546..73344035hg38UCSC Ensembl
Innerchr12:73685326..73737815hg19UCSC Ensembl
Innerchr12:71971593..72024082hg18UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3852490
hg1952490
hg1852490
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175869
SamplesHGDP00157
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559373
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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