A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5685545



Internal ID21711866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:93190527..93190527hg38UCSC Ensembl
chr5:92526233..92526233hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38245
hg19245
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17176351, nssv17213117
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)nsv5685545
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