A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5693465



Internal ID21719786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:38500159..38500159hg38UCSC Ensembl
chr3:38541650..38541650hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17220006, nssv17207281
Samples
Known GenesEXOG
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)nsv5693465
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer