A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438071



Internal ID15387882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:92685762..92694330hg38UCSC Ensembl
Innerchr8:93697990..93706558hg19UCSC Ensembl
Innerchr8:93767166..93775734hg18UCSC Ensembl
Innerchr8:93654573..93663141hg16UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg388569
hg198569
hg188569
hg168569
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv470016, nssv470017, nssv470020, nssv470018
SamplesNA12878, NA12892, NA10860, NA07056
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)nsv438071
Frequency
Sample Size269
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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