A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17717874



Internal ID141540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:46017445..46017544hg38UCSC Ensembl
chr18:43597411..43597510hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5531218
Supporting Variants
Samples
Known GenesPSTPIP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17717874
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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