A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5698537



Internal ID21724858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:116509951..116509951hg38UCSC Ensembl
chr11:116380668..116380668hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38143
hg19143
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17214426, nssv17191927
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)nsv5698537
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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