A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5725691



Internal ID21752012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:29240822..29240822hg38UCSC Ensembl
chr13:29814959..29814959hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg381068
hg191068
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17242124
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)nsv5725691
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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