A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5683555



Internal ID21709876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172260290..172260290hg38UCSC Ensembl
chr5:171687294..171687294hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38272
hg19272
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17177684
Samples
Known GenesUBTD2
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)nsv5683555
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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