A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv470876



Internal ID15385705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22483141..22549913hg38UCSC Ensembl
Innerchr22:22837477..22892335hg19UCSC Ensembl
Innerchr22:21167477..21222335hg18UCSC Ensembl
Innerchr22:21162031..21216889hg16UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg3866773
hg1954859
hg1854859
hg1654859
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438338
Supporting Variants
SamplesNA18526
Known GenesPRAME, 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)nssv470876
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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