A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv470917



Internal ID15387295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22692748..22721786hg38UCSC Ensembl
Innerchr22:23035233..23064271hg19UCSC Ensembl
Innerchr22:21365233..21394271hg18UCSC Ensembl
Innerchr22:21359787..21388825hg16UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg3829039
hg1929039
hg1829039
hg1629039
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438338
Supporting Variants
SamplesNA19145
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)nssv470917
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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