A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17237249



Internal ID21684758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:208299233..208299233hg38UCSC Ensembl
chr1:208472578..208472578hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5726697
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)nssv17237249
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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