A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438191



Internal ID15388002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11986851..11993070hg38UCSC Ensembl
Innerchr12:12139785..12146004hg19UCSC Ensembl
Innerchr12:12031052..12037271hg18UCSC Ensembl
Innerchr12:12031052..12037271hg16UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg386220
hg196220
hg186220
hg166220
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv470370, nssv470372, nssv470367, nssv470371, nssv470368, nssv470369
SamplesNA18862, NA19145, NA19207, NA19208, NA18863, NA19143
Known Genes
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.
PlatformNot reported
Comments
ReferenceMcCarroll_et_al_2006
Pubmed ID16468122
Accession Number(s)nsv438191
Frequency
Sample Size269
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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