A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17242493



Internal ID21690002
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 StatusS
Merged Variantsnsv5722644
Supporting Variants
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)nssv17242493
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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