A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5675304



Internal ID21701625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:189210848..189210848hg38UCSC Ensembl
chr3:188928637..188928637hg19UCSC 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 Variantsnssv17224054, nssv17208530
Samples
Known GenesTPRG1
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)nsv5675304
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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