A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17242408



Internal ID21689917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:199018301..199018301hg38UCSC Ensembl
chr1:198987430..198987430hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5725894
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)nssv17242408
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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