A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5678402



Internal ID21704723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:169459733..169459733hg38UCSC Ensembl
chr5:168886737..168886737hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38238
hg19238
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17217270, nssv17177152
Samples
Known Genes
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)nsv5678402
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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