A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17239117



Internal ID21686626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:84002871..84002871hg38UCSC Ensembl
chr15:84671623..84671623hg19UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg386014
hg196014
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5718347
Supporting Variants
Samples
Known GenesADAMTSL3
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)nssv17239117
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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