A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5682332



Internal ID21708653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:37562949..37562949hg38UCSC Ensembl
chr3:37604440..37604440hg19UCSC Ensembl
Cytoband3p22.2
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 Variantsnssv17230602, nssv17207274
Samples
Known GenesITGA9
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)nsv5682332
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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