A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438194



Internal ID15388005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:18326920..18414084hg38UCSC Ensembl
Innerchr12:18479854..18567018hg19UCSC Ensembl
Innerchr12:18371121..18458285hg18UCSC Ensembl
Innerchr12:18371121..18458285hg16UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3887165
hg1987165
hg1887165
hg1687165
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv470378, nssv470373, nssv470377, nssv470376, nssv470375
SamplesNA19137, NA19159, NA19161, NA19139
Known GenesPIK3C2G
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)nsv438194
Frequency
Sample Size269
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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