A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv470869



Internal ID15386417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22357438..22881878hg38UCSC Ensembl
Innerchr22:22711786..23224058hg19UCSC Ensembl
Innerchr22:21041786..21554058hg18UCSC Ensembl
Innerchr22:21036340..21548612hg16UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38524441
hg19512273
hg18512273
hg16512273
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438338
Supporting Variants
SamplesNA18943
Known GenesGGTLC2, LOC648691, MIR650, 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)nssv470869
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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