A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5718194



Internal ID21744515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:110087615..110087615hg38UCSC Ensembl
chr3:109806462..109806462hg19UCSC Ensembl
Cytoband3q13.13
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17237539, nssv17233729
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)nsv5718194
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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