A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5683666



Internal ID21709987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:58625978..58625978hg38UCSC Ensembl
chr5:57921805..57921805hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17213066, nssv17177050
Samples
Known GenesRAB3C
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)nsv5683666
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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