A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728748



Internal ID21755069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:108851089..108851089hg38UCSC Ensembl
chr3:108569936..108569936hg19UCSC Ensembl
Cytoband3q13.13
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17234635, nssv17241730
Samples
Known GenesTRAT1
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)nsv5728748
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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