A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612133



Internal ID16399542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:121883020..121997460hg38UCSC Ensembl
Innerchr8:122895259..123009699hg19UCSC Ensembl
Innerchr8:122964440..123078880hg18UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38114441
hg19114441
hg18114441
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1156868
SamplesHGDP01095
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612133
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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