A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5727051



Internal ID21753372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:73461111..73461111hg38UCSC Ensembl
chr4:74326828..74326828hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38745
hg19745
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17250024
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)nsv5727051
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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