A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv611462



Internal ID16398871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:68729052..68902343hg38UCSC Ensembl
Innerchr8:69641287..69814578hg19UCSC Ensembl
Innerchr8:69803841..69977132hg18UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg38173292
hg19173292
hg18173292
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1156851
SamplesHGDP01169
Known GenesC8orf34
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv611462
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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