A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17202840



Internal ID21650349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:45955917..45955917hg38UCSC Ensembl
chr2:46183056..46183056hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5690004
Supporting Variants
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)nssv17202840
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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