A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3117316



Internal ID21300582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18806421..19023069hg38UCSC Ensembl
Innerchr22:18793934..19010582hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38216649
hg19216649
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14102647, nssv14102967
Samplessample43, sample253
Known GenesDGCR10, DGCR5, DGCR6, DGCR9, PRODH
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3117316
Frequency
Sample Size467
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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