A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17240320



Internal ID21687829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:52350830..52350830hg38UCSC Ensembl
chr20:50967369..50967369hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg386018
hg196018
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5728502
Supporting Variants
Samples
Known Genes
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)nssv17240320
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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