A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5726093



Internal ID21752414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:180111116..180111116hg38UCSC Ensembl
chr3:179828904..179828904hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17238069, nssv17251319
Samples
Known Genes
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)nsv5726093
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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