A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5727981



Internal ID21754302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:25151926..25151926hg38UCSC Ensembl
chr18:22731890..22731890hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38357
hg19357
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17249016
Samples
Known GenesZNF521
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)nsv5727981
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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