A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv470442



Internal ID15038904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:48330995..48340826hg38UCSC Ensembl
Innerchr12:48724778..48734609hg19UCSC Ensembl
Innerchr12:47011045..47020876hg18UCSC Ensembl
Innerchr12:47011045..47020876hg16UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg389832
hg199832
hg189832
hg169832
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438208
Supporting Variants
SamplesNA18506
Known GenesZNF641
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)nssv470442
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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