A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438055



Internal ID15041286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:54452024..54461327hg38UCSC Ensembl
Innerchr8:55364584..55373887hg19UCSC Ensembl
Innerchr8:55527137..55536440hg18UCSC Ensembl
Innerchr8:55414544..55423847hg16UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg389304
hg199304
hg189304
hg169304
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv469979, nssv469980
SamplesNA19172, NA19128
Known GenesSOX17
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)nsv438055
Frequency
Sample Size269
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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