A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721151



Internal ID21747472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:32886649..32886649hg38UCSC Ensembl
chr17:31213667..31213667hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg385545
hg195545
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17246540
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)nsv5721151
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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