A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5679269



Internal ID21705590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:166214317..166214317hg38UCSC Ensembl
chr5:165641322..165641322hg19UCSC Ensembl
Cytoband5q34
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 Variantsnssv17179333
Samples
Known Genes
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)nsv5679269
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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