A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721338



Internal ID21747659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:109171696..109171696hg38UCSC Ensembl
chr5:108507397..108507397hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg382646
hg192646
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17240342
Samples
Known GenesFER
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)nsv5721338
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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