A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722145



Internal ID21748466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:53005916..53005916hg38UCSC Ensembl
chr20:51622455..51622455hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17251029, nssv17239850
Samples
Known GenesTSHZ2
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)nsv5722145
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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