A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv470040



Internal ID15387762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:114571877..114642655hg38UCSC Ensembl
Innerchr8:115584106..115654884hg19UCSC Ensembl
Innerchr8:115653282..115724060hg18UCSC Ensembl
Innerchr8:115540689..115611467hg16UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3870779
hg1970779
hg1870779
hg1670779
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438078
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisHardy-Weinberg disequilibrium - we looked for genomic regions in which hetobs/hetexp consistency fell below some cutoff (we used cutoffs of 0.7 and 0.4).
PlatformNot reported
Comments
ReferenceMcCarroll_et_al_2006
Pubmed ID16468122
Accession Number(s)nssv470040
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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