A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721250



Internal ID21747571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:113157267..113157267hg38UCSC Ensembl
chr3:112876114..112876114hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg382649
hg192649
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17252305
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)nsv5721250
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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