A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5679022



Internal ID21705343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:122842144..122842144hg38UCSC Ensembl
chr3:122560991..122560991hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17211393, nssv17213763
Samples
Known GenesDIRC2
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5679022
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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