A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5714518



Internal ID21740839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:23092234..23092234hg38UCSC Ensembl
chr16:23103555..23103555hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38958
hg19958
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17248176
Samples
Known GenesUSP31
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)nsv5714518
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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