A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722508



Internal ID21748829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:235811669..235811669hg38UCSC Ensembl
chr1:235974969..235974969hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg381371
hg191371
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17242566
Samples
Known GenesLYST
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)nsv5722508
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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