A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5709889



Internal ID21736210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:122781916..122781916hg38UCSC Ensembl
chr10:124541432..124541432hg19UCSC Ensembl
Cytoband10q26.13
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 Variantsnssv17189352
Samples
Known GenesFLJ46361
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)nsv5709889
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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