A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717994



Internal ID21744315
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 StatusM
Merged Variants
Supporting Variantsnssv17247152
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)nsv5717994
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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