A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722644



Internal ID21748965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:14619164..14619164hg38UCSC Ensembl
chr11:14640710..14640710hg19UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg381591
hg191591
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17242493
Samples
Known GenesPSMA1
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)nsv5722644
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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