A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5726945



Internal ID21753266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:79092381..79092381hg38UCSC Ensembl
chr16:79126278..79126278hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg381369
hg191369
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17245581, nssv17250607
Samples
Known GenesWWOX
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)nsv5726945
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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