A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5720599



Internal ID21746920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:53479179..53479179hg38UCSC Ensembl
chr20:52095718..52095718hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg381967
hg191967
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17239637
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)nsv5720599
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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