A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17246801



Internal ID21694310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:39544883..39544883hg38UCSC Ensembl
chr11:39566433..39566433hg19UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg382125
hg192125
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5722496
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)nssv17246801
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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