A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17203289



Internal ID21650798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:9533144..9533144hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5707625
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)nssv17203289
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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