A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5719379



Internal ID21745700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:124399497..124399497hg38UCSC Ensembl
chrX:123533347..123533347hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg38234
hg19234
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17248313, nssv17250509
Samples
Known GenesTENM1
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)nsv5719379
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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