A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv470612



Internal ID15384521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:79905269..79928975hg38UCSC Ensembl
Innerchr13:80479404..80503110hg19UCSC Ensembl
Innerchr13:79377405..79401111hg18UCSC Ensembl
Innerchr13:78277405..78301111hg16UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3823707
hg1923707
hg1823707
hg1623707
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438256
Supporting Variants
SamplesNA11829
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)nssv470612
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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