A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438195



Internal ID15041426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:20915403..21010665hg38UCSC Ensembl
Innerchr12:21068337..21163599hg19UCSC Ensembl
Innerchr12:20959604..21054866hg18UCSC Ensembl
Innerchr12:20959604..21054866hg16UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg3895263
hg1995263
hg1895263
hg1695263
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv470380, nssv470379, nssv470381
SamplesNA18594, NA19007
Known GenesSLCO1B3
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)nsv438195
Frequency
Sample Size269
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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