A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5679646



Internal ID21705967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:66963680..66963680hg38UCSC Ensembl
chr3:67014104..67014104hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg38242
hg19242
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17216006
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)nsv5679646
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