A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5685390



Internal ID21711711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:77039428..77039428hg38UCSC Ensembl
chr5:76335253..76335253hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38238
hg19238
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17178041
Samples
Known GenesAGGF1
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)nsv5685390
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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