A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5694197



Internal ID21720518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:189398065..189398065hg38UCSC Ensembl
chr3:189115854..189115854hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17230177, nssv17208533
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)nsv5694197
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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