A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612870



Internal ID16053593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143618822..143626978hg38UCSC Ensembl
Innerchr8:144700992..144709148hg19UCSC Ensembl
Innerchr8:144772135..144780291hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg388157
hg198157
hg188157
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12428n54
Supporting Variantsnssv1125687, nssv1125688, nssv1125686, nssv1125690, nssv1125689
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612870
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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