A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722933



Internal ID21749254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:27634399..27634399hg38UCSC Ensembl
chr22:28030366..28030366hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17241511
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)nsv5722933
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