A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17718831



Internal ID142497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:63644528..63662100hg38UCSC Ensembl
chr18:61311762..61329334hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg3817573
hg1917573
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5532857
Supporting Variants
Samples
Known GenesSERPINB3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17718831
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000313


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