A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5690948



Internal ID21717269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:18194162..18194162hg38UCSC Ensembl
chr3:18235654..18235654hg19UCSC Ensembl
Cytoband3p24.3
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 Variantsnssv17215548
Samples
Known GenesLOC339862
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)nsv5690948
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