A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612132



Internal ID16399541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:121392857..121440080hg38UCSC Ensembl
Innerchr8:122405097..122452320hg19UCSC Ensembl
Innerchr8:122474278..122521501hg18UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg3847224
hg1947224
hg1847224
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1156867
SamplesHGDP01199
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612132
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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