A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5714929



Internal ID21741250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:115291122..115291122hg38UCSC Ensembl
chr10:117050632..117050632hg19UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg38227
hg19227
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17240232, nssv17240799
Samples
Known GenesATRNL1
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)nsv5714929
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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