A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5689602



Internal ID21715923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:85676927..85676927hg38UCSC Ensembl
chr6:86386645..86386645hg19UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17223709, nssv17180395
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)nsv5689602
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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