A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5683391



Internal ID21709712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:79057143..79057143hg38UCSC Ensembl
chr5:78352966..78352966hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38244
hg19244
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17213091, nssv17176491
Samples
Known GenesDMGDH
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)nsv5683391
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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