A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722483



Internal ID21748804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:29220012..29220012hg38UCSC Ensembl
chr13:29794149..29794149hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38998
hg19998
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17238146
Samples
Known GenesMTUS2
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)nsv5722483
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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