A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5685687



Internal ID21712008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:94117864..94117864hg38UCSC Ensembl
chr3:93836708..93836708hg19UCSC Ensembl
Cytoband3q11.1
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 Variantsnssv17219928
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)nsv5685687
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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