A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17240120



Internal ID21687629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:9485014..9485014hg38UCSC Ensembl
chr20:9465661..9465661hg19UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg38335
hg19335
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5719970
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)nssv17240120
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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