A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5695219



Internal ID21721540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:75299955..75299955hg38UCSC Ensembl
chr14:75766658..75766658hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17196883, nssv17227425
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)nsv5695219
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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