A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17717306



Internal ID140972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:35402135..35408096hg38UCSC Ensembl
chr18:32982099..32988060hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg385962
hg195962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5522733
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17717306
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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