A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5689611



Internal ID21715932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:120468617..120468617hg38UCSC Ensembl
chr3:120187464..120187464hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17210746, nssv17228032
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)nsv5689611
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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