A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5676814



Internal ID21703135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:28459619..28459619hg38UCSC Ensembl
chr6:28427396..28427396hg19UCSC Ensembl
Cytoband6p22.1
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 Variantsnssv17216485, nssv17177303
Samples
Known Genes
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)nsv5676814
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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