A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv470910



Internal ID15384741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22359237..22362045hg38UCSC Ensembl
Innerchr22:22713585..22716405hg19UCSC Ensembl
Innerchr22:21043585..21046405hg18UCSC Ensembl
Innerchr22:21038139..21040959hg16UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg382809
hg192821
hg182821
hg162821
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438338
Supporting Variants
SamplesNA12044
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)nssv470910
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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