A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5693982



Internal ID21720303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:140087097..140087097hg38UCSC Ensembl
chr3:139805939..139805939hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17208430, nssv17226271
Samples
Known GenesCLSTN2
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)nsv5693982
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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