A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17243853



Internal ID21691362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:83966421..83966421hg38UCSC Ensembl
chr11:83677464..83677464hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg384510
hg194510
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5717235
Supporting Variants
Samples
Known GenesDLG2
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)nssv17243853
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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