A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438208



Internal ID15041439
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 StatusM
Merged Variants
Supporting Variantsnssv470440, nssv470442
SamplesNA18506, NA18508
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)nsv438208
Frequency
Sample Size269
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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