A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5714728



Internal ID21741049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:4050326..4050326hg38UCSC Ensembl
chr6:4050560..4050560hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg385611
hg195611
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17237850
Samples
Known GenesPRPF4B
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)nsv5714728
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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