A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5679387



Internal ID21705708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:117349744..117349744hg38UCSC Ensembl
chr6:117670907..117670907hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg38243
hg19243
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17231708, nssv17180171
Samples
Known GenesROS1
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)nsv5679387
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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