A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5718450



Internal ID21744771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:133784473..133784473hg38UCSC Ensembl
chr3:133503317..133503317hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38899
hg19899
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17238019, nssv17248259
Samples
Known GenesSRPRB
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5718450
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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