A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5726455



Internal ID21752776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:29032556..29032556hg38UCSC Ensembl
chr9_gl000198_random:74310..74310hg19UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg383045
hg193045
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17240754, nssv17235914
Samples
Known Genes
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)nsv5726455
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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