A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5684892



Internal ID21711213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:27505217..27505217hg38UCSC Ensembl
chr6:27472996..27472996hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38194
hg19194
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17177287, nssv17214329
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)nsv5684892
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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