A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5726822



Internal ID21753143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:103446741..103446741hg38UCSC Ensembl
chrX:102701669..102701669hg19UCSC Ensembl
CytobandXq22.2
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 Variantsnssv17219958, nssv17203462
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)nsv5726822
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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