A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17237223



Internal ID21684732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:58513656..58513656hg38UCSC Ensembl
chr12:58907439..58907439hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38168
hg19168
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5730098
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)nssv17237223
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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