A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5727917



Internal ID21754238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:184076681..184076681hg38UCSC Ensembl
chr1:184045815..184045815hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17242917
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)nsv5727917
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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