A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5692383



Internal ID21718704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:46032994..46032994hg38UCSC Ensembl
chr2:46260133..46260133hg19UCSC Ensembl
Cytoband2p21
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 Variantsnssv17200890, nssv17207921
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)nsv5692383
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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