A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5706941



Internal ID21733262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:83670375..83670375hg38UCSC Ensembl
chr9:86285290..86285290hg19UCSC Ensembl
Cytoband9q21.32
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 Variantsnssv17186817
Samples
Known GenesUBQLN1
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)nsv5706941
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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