A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5688792



Internal ID21715113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:116695886..116695886hg38UCSC Ensembl
chr6:117017049..117017049hg19UCSC Ensembl
Cytoband6q22.1
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 Variantsnssv17180162
Samples
Known GenesKPNA5
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)nsv5688792
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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