A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728354



Internal ID21754675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:18629183..18629183hg38UCSC Ensembl
chr11:18650730..18650730hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg381614
hg191614
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17235098
Samples
Known GenesSPTY2D1
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)nsv5728354
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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