A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv470871



Internal ID15386667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22556814..22582531hg38UCSC Ensembl
Innerchr22:22899234..22924995hg19UCSC Ensembl
Innerchr22:21229234..21254995hg18UCSC Ensembl
Innerchr22:21223788..21249549hg16UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg3825718
hg1925762
hg1825762
hg1625762
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438338
Supporting Variants
SamplesNA18972
Known GenesLOC648691, PRAME
MethodSNP array
AnalysisNull genotypes - for each genotype assay and population sample we defined the null genotype pattern of that assay as the binary vector (length 90) of null genotype calls across the 90 individuals.
PlatformNot reported
Comments
ReferenceMcCarroll_et_al_2006
Pubmed ID16468122
Accession Number(s)nssv470871
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