A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5681331



Internal ID21707652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:79792317..79792317hg38UCSC Ensembl
chr5:79088140..79088140hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17213101
Samples
Known GenesCMYA5
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)nsv5681331
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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