A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721733



Internal ID21748054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:21159006..21159006hg38UCSC Ensembl
chr20:21139647..21139647hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg38219
hg19219
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17251189
Samples
Known GenesPLK1S1
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5721733
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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