A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5687282



Internal ID21713603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:42860189..42860189hg38UCSC Ensembl
chr3:42901681..42901681hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17214460
Samples
Known GenesACKR2
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)nsv5687282
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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