A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5680973



Internal ID21707294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:59804553..59804553hg38UCSC Ensembl
chr5:59100379..59100379hg19UCSC Ensembl
Cytoband5q12.1
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 Variantsnssv17213075, nssv17175478
Samples
Known GenesPDE4D
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)nsv5680973
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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