A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv437917



Internal ID15388267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:34778620..34863665hg38UCSC Ensembl
Innerchr4:34780242..34865287hg19UCSC Ensembl
Innerchr4:34456637..34541682hg18UCSC Ensembl
Innerchr4:34677422..34762467hg16UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg3885046
hg1985046
hg1885046
hg1685046
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv468254, nssv468250, nssv468249, nssv468258, nssv468248, nssv468271, nssv468255, nssv468264, nssv468266, nssv468259, nssv468253, nssv468256, nssv468260, nssv468268, nssv468265, nssv468247, nssv468267, nssv468269, nssv468261, nssv468251, nssv468270, nssv468262, nssv468257
SamplesNA19098, NA12802, NA18860, NA19131, NA11992, NA12156, NA12815, NA19200, NA12878, NA18529, NA19208, NA19132, NA18858, NA19206, NA10859, NA10860, NA07034, NA11832
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.
Null 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)nsv437917
Frequency
Sample Size269
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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