A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17247152



Internal ID21694661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:51417134..51417134hg38UCSC Ensembl
chr15:51709331..51709331hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg38761
hg19761
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5717994
Supporting Variants
Samples
Known Genes
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)nssv17247152
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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