A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5725198



Internal ID21751519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:47823279..47823279hg38UCSC Ensembl
chr6:47791015..47791015hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg381198
hg191198
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17247365
Samples
Known GenesOPN5
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)nsv5725198
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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