A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv470760



Internal ID15386296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:6441354..6441923hg38UCSC Ensembl
Innerchr20:6422001..6422570hg19UCSC Ensembl
Innerchr20:6370001..6370570hg18UCSC Ensembl
Innerchr20:6417001..6417570hg16UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38570
hg19570
hg18570
hg16570
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438307
Supporting Variants
SamplesNA18863
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)nssv470760
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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