A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17717852



Internal ID141518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:45681049..45681363hg38UCSC Ensembl
chr18:43261014..43261328hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5528935
Supporting Variants
Samples
Known GenesSLC14A2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17717852
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.887449


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