A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5723173



Internal ID21749494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:45736416..45736416hg38UCSC Ensembl
chr11:45757967..45757967hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg382419
hg192419
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17245702
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)nsv5723173
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