A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17240232



Internal ID21687741
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 StatusS
Merged Variantsnsv5714929
Supporting Variants
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)nssv17240232
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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