A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438306



Internal ID15388116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:1589058..1591728hg38UCSC Ensembl
Innerchr20:1569704..1572374hg19UCSC Ensembl
Innerchr20:1517704..1520374hg18UCSC Ensembl
Innerchr20:1564704..1567374hg16UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg382671
hg192671
hg182671
hg162671
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv470755, nssv470753, nssv470757, nssv470750, nssv470756, nssv470751, nssv470754, nssv470758
SamplesNA18862, NA19130, NA19239, NA19161, NA19160, NA19132, NA18863, NA19240
Known GenesSIRPB1
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)nsv438306
Frequency
Sample Size269
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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