A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5720703



Internal ID21747024
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 StatusM
Merged Variants
Supporting Variantsnssv17236416
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)nsv5720703
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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