A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717383



Internal ID21743704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:80139040..80139040hg38UCSC Ensembl
chrX:79394539..79394539hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg38516
hg19516
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17239551
Samples
Known Genes
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)nsv5717383
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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