A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv470923



Internal ID15385482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22853026..22871408hg38UCSC Ensembl
Innerchr22:23195201..23213587hg19UCSC Ensembl
Innerchr22:21525201..21543587hg18UCSC Ensembl
Innerchr22:21519755..21538141hg16UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg3818383
hg1918387
hg1818387
hg1618387
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438338
Supporting Variants
SamplesNA18502
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)nssv470923
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer