A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17237255



Internal ID21684764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:98061050..98061050hg38UCSC Ensembl
chr1:98526606..98526606hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg38412
hg19412
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5716080
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)nssv17237255
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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