A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5680690



Internal ID21707011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:163394357..163394357hg38UCSC Ensembl
chr3:163112145..163112145hg19UCSC Ensembl
Cytoband3q26.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17219350
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)nsv5680690
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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