A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5726729



Internal ID21753050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:95174989..95174989hg38UCSC Ensembl
chr14:95641326..95641326hg19UCSC Ensembl
Cytoband14q32.13
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17233335
Samples
Known GenesDICER1-AS1
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)nsv5726729
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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