A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5725319



Internal ID21751640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:40946525..40946525hg38UCSC Ensembl
chr18:38526489..38526489hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg382134
hg192134
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17251021
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)nsv5725319
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