A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558040



Internal ID15998763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31108025..31253875hg38UCSC Ensembl
Innerchr12:31260959..31406809hg19UCSC Ensembl
Innerchr12:31152226..31298076hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38145851
hg19145851
hg18145851
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2464n54
Supporting Variantsnssv1175835
SamplesHGDP00923
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558040
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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