A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17723030



Internal ID146696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:35675498..35716472hg38UCSC Ensembl
chr19:36166400..36207374hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg3840975
hg1940975
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5522588
Supporting Variants
Samples
Known GenesUPK1A, ZBTB32
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17723030
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