A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17189424



Internal ID21636933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:129128057..129128057hg38UCSC Ensembl
chr10:130926321..130926321hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5711297
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)nssv17189424
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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