A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5693086



Internal ID21719407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:83881984..83881984hg38UCSC Ensembl
chr5:83177803..83177803hg19UCSC 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 Variantsnssv17176559, nssv17212219
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)nsv5693086
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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