A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5674339



Internal ID21700660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:129568353..129568353hg38UCSC Ensembl
chr5:128904046..128904046hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg38247
hg19247
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17224111, nssv17176736
Samples
Known GenesADAMTS19
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)nsv5674339
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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