A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717464



Internal ID21743785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:50310581..50310581hg38UCSC Ensembl
chr3:50348012..50348012hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg383761
hg193761
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17248718
Samples
Known GenesHYAL1
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)nsv5717464
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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