A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558042



Internal ID15998765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31113353..31249756hg38UCSC Ensembl
Innerchr12:31266287..31402690hg19UCSC Ensembl
Innerchr12:31157554..31293957hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38136404
hg19136404
hg18136404
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2464n54
Supporting Variantsnssv1175836, nssv791538
SamplesHGDP00925
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558042
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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