A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17018171



Internal ID79759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:138703930..138703982hg38UCSC Ensembl
chr8:139716173..139716225hg19UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5486347
Supporting Variants
Samples
Known GenesCOL22A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17018171
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