A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724980



Internal ID21751301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:86167722..86167722hg38UCSC Ensembl
chr3:86216872..86216872hg19UCSC Ensembl
Cytoband3p12.1
Allele length
AssemblyAllele length
hg38714
hg19714
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17250422, nssv17243101
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)nsv5724980
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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