A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17201143



Internal ID21648652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:45071920..45071920hg38UCSC Ensembl
chr18:42651885..42651885hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5710620
Supporting Variants
Samples
Known Genes
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17201143
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