A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17725328



Internal ID148994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50731931..50752793hg38UCSC Ensembl
chr19:51235188..51256050hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3820863
hg1920863
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5519737
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17725328
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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