A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5705599



Internal ID21731920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:109104369..109104369hg38UCSC Ensembl
chr8:110116598..110116598hg19UCSC Ensembl
Cytoband8q23.1
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 Variantsnssv17216071
Samples
Known GenesTRHR
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)nsv5705599
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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