A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17189359



Internal ID21636868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:123465812..123465812hg38UCSC Ensembl
chr10:125225328..125225328hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5707525
Supporting Variants
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)nssv17189359
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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