A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5719415



Internal ID21745736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:93964941..93964941hg38UCSC Ensembl
chr3:93683785..93683785hg19UCSC Ensembl
Cytoband3q11.1
Allele length
AssemblyAllele length
hg382319
hg192319
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17241719
Samples
Known GenesPROS1
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)nsv5719415
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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