A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5694131



Internal ID21720452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:142932719..142932719hg38UCSC Ensembl
chr3:142651561..142651561hg19UCSC Ensembl
Cytoband3q23
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 Variantsnssv17210021, nssv17218542
Samples
Known GenesLOC100507389
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)nsv5694131
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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