A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv470044



Internal ID15385633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:122058295..122065397hg38UCSC Ensembl
Innerchr8:123070534..123077636hg19UCSC Ensembl
Innerchr8:123139715..123146817hg18UCSC Ensembl
Innerchr8:123027122..123034224hg16UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg387103
hg197103
hg187103
hg167103
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438080
Supporting Variants
SamplesNA18516
Known Genes
MethodSNP array
AnalysisNull genotypes - for each genotype assay and population sample we defined the null genotype pattern of that assay as the binary vector (length 90) of null genotype calls across the 90 individuals.
PlatformNot reported
Comments
ReferenceMcCarroll_et_al_2006
Pubmed ID16468122
Accession Number(s)nssv470044
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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