A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5693379



Internal ID21719700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:86748431..86748431hg38UCSC Ensembl
chr5:86044248..86044248hg19UCSC Ensembl
Cytoband5q14.3
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 Variantsnssv17177805
Samples
Known GenesLOC100505878
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)nsv5693379
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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