A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17234862



Internal ID21682371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:29038106..29038106hg38UCSC Ensembl
chr9_gl000198_random:79860..79860hg19UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg383374
hg193374
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5720586
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)nssv17234862
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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