A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5682988



Internal ID21709309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:45958835..45958835hg38UCSC Ensembl
chr2:46185974..46185974hg19UCSC Ensembl
Cytoband2p21
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 Variantsnssv17207919
Samples
Known GenesPRKCE
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)nsv5682988
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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