A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5682983



Internal ID21709304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:168603617..168603617hg38UCSC Ensembl
chr2:169460127..169460127hg19UCSC Ensembl
Cytoband2q24.3
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 Variantsnssv17232571
Samples
Known GenesCERS6
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)nsv5682983
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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