A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5688289



Internal ID21714610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:129993818..129993818hg38UCSC Ensembl
chr3:129712661..129712661hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17224477
Samples
Known Genes
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)nsv5688289
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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