A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5719080



Internal ID21745401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:153891211..153891211hg38UCSC Ensembl
chrX:153156665..153156665hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38252
hg19252
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17215675, nssv17205099
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)nsv5719080
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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