A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv470854



Internal ID15384280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22438063..22615660hg38UCSC Ensembl
Innerchr22:22792400..22958130hg19UCSC Ensembl
Innerchr22:21122400..21288130hg18UCSC Ensembl
Innerchr22:21116954..21282684hg16UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38177598
hg19165731
hg18165731
hg16165731
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438338
Supporting Variants
SamplesNA10846
Known GenesLOC648691, PRAME, ZNF280A, ZNF280B
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)nssv470854
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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