A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv437914



Internal ID15388264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:21290590..21374194hg38UCSC Ensembl
Innerchr4:21292213..21375817hg19UCSC Ensembl
Innerchr4:20901311..20984915hg18UCSC Ensembl
Innerchr4:21043096..21126700hg16UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg3883605
hg1983605
hg1883605
hg1683605
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv468239, nssv468244, nssv468231, nssv468233, nssv468240, nssv468235, nssv468238, nssv468226, nssv468236, nssv468237, nssv468229, nssv468227, nssv468228, nssv468232, nssv468225, nssv468224, nssv468243, nssv468242, nssv468234, nssv468223
SamplesNA19222, NA18508, NA18855, NA19145, NA19092, NA19192, NA19201, NA19119, NA19238, NA19159, NA19210, NA19205, NA19103, NA19094, NA18913, NA19144, NA19143, NA18506, NA18854
Known GenesKCNIP4
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).
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)nsv437914
Frequency
Sample Size269
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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