A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17717568



Internal ID141234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:40218287..40218338hg38UCSC Ensembl
chr18:37798251..37798302hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5417227
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17717568
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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