A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5675292



Internal ID21701613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:109839106..109839106hg38UCSC Ensembl
chr5:109174807..109174807hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17213248, nssv17177877
Samples
Known GenesMAN2A1
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)nsv5675292
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