A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438196



Internal ID15041427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:22042268..22081124hg38UCSC Ensembl
Innerchr12:22195202..22234058hg19UCSC Ensembl
Innerchr12:22086469..22125325hg18UCSC Ensembl
Innerchr12:22086469..22125325hg16UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3838857
hg1938857
hg1838857
hg1638857
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv470384, nssv470382, nssv470383
SamplesNA19141, NA19142
Known GenesCMAS
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)nsv438196
Frequency
Sample Size269
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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