A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17236416



Internal ID21683925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130811640..130811640hg38UCSC Ensembl
chr3:130530484..130530484hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg382288
hg192288
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5720703
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)nssv17236416
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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