A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5725062



Internal ID21751383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:46521682..46521682hg38UCSC Ensembl
chr19:47024939..47024939hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg386015
hg196015
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17243336, nssv17247218
Samples
Known GenesPPP5D1
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)nsv5725062
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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