A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5685227



Internal ID21711548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:14133803..14133803hg38UCSC Ensembl
chr6:14134034..14134034hg19UCSC Ensembl
Cytoband6p23
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17179184, nssv17224748
Samples
Known GenesCD83
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)nsv5685227
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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