A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv437962



Internal ID15041193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29888169..29926574hg38UCSC Ensembl
Innerchr6:29961770..30000151hg16UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3838406
hg1638382
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv468734, nssv468731, nssv468730, nssv468728, nssv468727, nssv468732, nssv468733
SamplesNA18507, NA19200, NA19202, NA19094, NA19093, NA18506
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)nsv437962
Frequency
Sample Size269
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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