A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5726082



Internal ID21752403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:51422992..51422992hg38UCSC Ensembl
chrX:51165844..51165844hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg384776
hg194776
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17215469
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)nsv5726082
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer