A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17239649



Internal ID21687158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:128427653..128427653hg38UCSC Ensembl
chr11:128297548..128297548hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg381253
hg191253
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5718215
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)nssv17239649
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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