A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5714981



Internal ID21741302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:81010879..81010879hg38UCSC Ensembl
chr14:81477223..81477223hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg386018
hg196018
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17237418, nssv17235043
Samples
Known GenesTSHR
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)nsv5714981
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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