A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5729694



Internal ID21756015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:72518990..72518990hg38UCSC Ensembl
chr15:72811331..72811331hg19UCSC Ensembl
Cytoband15q24.1
Allele length
AssemblyAllele length
hg384019
hg194019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17238784
Samples
Known GenesARIH1
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)nsv5729694
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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