A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17018497



Internal ID79970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:122729674..122733238hg38UCSC Ensembl
chr8:123741913..123745477hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg383565
hg193565
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5488894
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17018497
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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