A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5687238



Internal ID21713559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:146434476..146434476hg38UCSC Ensembl
chr3:146152263..146152263hg19UCSC Ensembl
Cytoband3q24
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 Variantsnssv17222884, nssv17210063
Samples
Known GenesPLSCR2
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)nsv5687238
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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