A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5726133



Internal ID21752454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:115056317..115056317hg38UCSC Ensembl
chr1:115598938..115598938hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38535
hg19535
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17244710
Samples
Known GenesTSPAN2
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)nsv5726133
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