A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5714785



Internal ID21741106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:190118219..190118219hg38UCSC Ensembl
chr4:191039374..191039374hg19UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg381549
hg191549
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17248221
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)nsv5714785
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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