A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17249159



Internal ID21696668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:171694029..171694029hg38UCSC Ensembl
chr1:171663169..171663169hg19UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg384328
hg194328
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5721386
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)nssv17249159
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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