A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5683478



Internal ID21709799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:111783909..111783909hg38UCSC Ensembl
chr3:111502756..111502756hg19UCSC Ensembl
Cytoband3q13.2
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 Variantsnssv17214174
Samples
Known GenesPHLDB2, PLCXD2
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)nsv5683478
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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