A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv468732



Internal ID15040776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6_cox_hap1:1308206..1316145hg18UCSC Ensembl
Innerchr6:29963788..29971727hg16UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg187940
hg167940
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv437962
Supporting Variants
SamplesNA19200
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)nssv468732
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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