A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5686030



Internal ID21712351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:64362924..64362924hg38UCSC Ensembl
chr5:63658751..63658751hg19UCSC Ensembl
Cytoband5q12.3
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 Variantsnssv17177726, nssv17210958
Samples
Known GenesRNF180
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)nsv5686030
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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