A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5680587



Internal ID21706908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:119550263..119550263hg38UCSC Ensembl
chr5:118885958..118885958hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17230610, nssv17177406
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)nsv5680587
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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