A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717510



Internal ID21743831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:13190561..13190561hg38UCSC Ensembl
chr16:13284418..13284418hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17234305
Samples
Known GenesSHISA9
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)nsv5717510
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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