A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5685223



Internal ID21711544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:77032274..77032274hg38UCSC Ensembl
chr5:76328099..76328099hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17213185, nssv17178040
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)nsv5685223
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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