A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5691952



Internal ID21718273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:54654461..54654461hg38UCSC Ensembl
chr3:54688488..54688488hg19UCSC Ensembl
Cytoband3p14.3
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 Variantsnssv17214127
Samples
Known GenesCACNA2D3
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)nsv5691952
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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