A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612323



Internal ID16399732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:131458817..131552411hg38UCSC Ensembl
Innerchr8:132471064..132564658hg19UCSC Ensembl
Innerchr8:132540246..132633840hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg3893595
hg1993595
hg1893595
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12338n54
Supporting Variantsnssv1156642
SamplesHGDP00688
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612323
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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