A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv470902



Internal ID15385290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22363084..22367607hg38UCSC Ensembl
Innerchr22:22717444..22721975hg19UCSC Ensembl
Innerchr22:21047444..21051975hg18UCSC Ensembl
Innerchr22:21041998..21046529hg16UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg384524
hg194532
hg184532
hg164532
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438338
Supporting Variants
SamplesNA12864
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)nssv470902
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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