A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5727497



Internal ID21753818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:21194150..21194150hg38UCSC Ensembl
chr20:21174790..21174790hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg382587
hg192587
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17240276
Samples
Known GenesPLK1S1
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)nsv5727497
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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