A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17245678



Internal ID21693187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:82653650..82653650hg38UCSC Ensembl
chr11:82364692..82364692hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg38282
hg19282
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5729446
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)nssv17245678
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer