A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5720992



Internal ID21747313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:50214509..50214509hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38276
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17203891
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)nsv5720992
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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