A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5684738



Internal ID21711059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:18948233..18948233hg38UCSC Ensembl
chr3:18989725..18989725hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38255
hg19255
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17209540, nssv17218682
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)nsv5684738
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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