A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5694820



Internal ID21721141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:65169890..65169890hg38UCSC Ensembl
chr14:65636608..65636608hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17194841, nssv17216061
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)nsv5694820
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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