A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5714540



Internal ID21740861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:81134162..81134162hg38UCSC Ensembl
chrX:80389661..80389661hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17218821
Samples
Known GenesHMGN5
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5714540
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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