A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv470925



Internal ID15387765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22367607..22465111hg38UCSC Ensembl
Innerchr22:22721975..22819448hg19UCSC Ensembl
Innerchr22:21051975..21149448hg18UCSC Ensembl
Innerchr22:21046529..21144002hg16UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg3897505
hg1997474
hg1897474
hg1697474
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438338
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisHardy-Weinberg disequilibrium - we looked for genomic regions in which hetobs/hetexp consistency fell below some cutoff (we used cutoffs of 0.7 and 0.4).
PlatformNot reported
Comments
ReferenceMcCarroll_et_al_2006
Pubmed ID16468122
Accession Number(s)nssv470925
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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