A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5682943



Internal ID21709264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:137868711..137868711hg38UCSC Ensembl
chr6:138189848..138189848hg19UCSC Ensembl
Cytoband6q23.3
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 Variantsnssv17215882, nssv17179758
Samples
Known GenesTNFAIP3
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)nsv5682943
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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