A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438397



Internal ID15041627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:46756350..46805202hg38UCSC Ensembl
Innerchr3:46797840..46846692hg19UCSC Ensembl
Innerchr3:46772844..46821696hg18UCSC Ensembl
Innerchr3:46758432..46807284hg16UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3848853
hg1948853
hg1848853
hg1648853
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv471253, nssv471252, nssv471258, nssv471254, nssv471251, nssv471249, nssv471250, nssv471256, nssv471255
SamplesNA18860, NA19152, NA18859, NA18503, NA19154, NA18501, NA18500, NA18505
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).
Mendelian inconsistencies - for each genotype assay and population sample we defined the Mendel failure pattern of that assay as the binary vector (length 60) of Mendel consistency status across the 60 parent-offspring pair.
PlatformNot reported
Comments
ReferenceMcCarroll_et_al_2006
Pubmed ID16468122
Accession Number(s)nsv438397
Frequency
Sample Size269
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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