A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717334



Internal ID21743655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:30607157..30607157hg38UCSC Ensembl
chr3:30648649..30648649hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg382708
hg192708
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17237458, nssv17244809
Samples
Known GenesTGFBR2
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)nsv5717334
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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