A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5715717



Internal ID21742038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:19496016..19496016hg38UCSC Ensembl
chr20:19476660..19476660hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg386007
hg196007
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17242495, nssv17243775
Samples
Known GenesSLC24A3
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)nsv5715717
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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