A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5686861



Internal ID21713182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:47883035..47883035hg38UCSC Ensembl
chr2:48110174..48110174hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38234
hg19234
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17202510
Samples
Known GenesFBXO11
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)nsv5686861
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