A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17018186



Internal ID79768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:135980226..135983167hg38UCSC Ensembl
chr8:136992469..136995410hg19UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg382942
hg192942
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5478255
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17018186
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