A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438199



Internal ID15041430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27495777..27500838hg38UCSC Ensembl
Innerchr12:27648710..27653771hg19UCSC Ensembl
Innerchr12:27539977..27545038hg18UCSC Ensembl
Innerchr12:27539977..27545038hg16UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg385062
hg195062
hg185062
hg165062
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv470406, nssv470394, nssv470403, nssv470397, nssv470409, nssv470399, nssv470395, nssv470401, nssv470402, nssv470400, nssv470410, nssv470404, nssv470405, nssv470398
SamplesNA19152, NA19173, NA18855, NA19143, NA19239, NA19100, NA18515, NA19154, NA19145, NA18857, NA19099, NA19160, NA19171, NA19240
Known GenesSMCO2
MethodSNP array
AnalysisMendelian 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.
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)nsv438199
Frequency
Sample Size269
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer