A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv470850



Internal ID15384283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22439284..22693254hg38UCSC Ensembl
Innerchr22:22793621..23035739hg19UCSC Ensembl
Innerchr22:21123621..21365739hg18UCSC Ensembl
Innerchr22:21118175..21360293hg16UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38253971
hg19242119
hg18242119
hg16242119
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438338
Supporting Variants
SamplesNA10846
Known GenesGGTLC2, LOC648691, POM121L1P, 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)nssv470850
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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