A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5689805



Internal ID21716126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:94124591..94124591hg38UCSC Ensembl
chr3:93843435..93843435hg19UCSC Ensembl
Cytoband3q11.1
Allele length
AssemblyAllele length
hg38274
hg19274
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17219750, nssv17210475
Samples
Known GenesNSUN3
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)nsv5689805
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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