A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv470913



Internal ID15384415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22601683..22729735hg38UCSC Ensembl
Innerchr22:22944153..23072224hg19UCSC Ensembl
Innerchr22:21274153..21402224hg18UCSC Ensembl
Innerchr22:21268707..21396778hg16UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38128053
hg19128072
hg18128072
hg16128072
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438338
Supporting Variants
SamplesNA10857
Known GenesGGTLC2, POM121L1P
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)nssv470913
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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