A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5698412



Internal ID21724733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:58768977..58768977hg38UCSC Ensembl
chr15:59061176..59061176hg19UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg38240
hg19240
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17230035
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)nsv5698412
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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