A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv470447



Internal ID15038920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:55321092..55331906hg38UCSC Ensembl
Innerchr12:55714876..55725690hg19UCSC Ensembl
Innerchr12:54001143..54011957hg18UCSC Ensembl
Innerchr12:54001143..54011957hg16UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg3810815
hg1910815
hg1810815
hg1610815
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438211
Supporting Variants
SamplesNA18508
Known GenesOR6C1, OR6C3
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)nssv470447
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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