A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17725342



Internal ID149008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50860289..50860340hg38UCSC Ensembl
chr19:51363545..51363596hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38110
hg19110
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5428826
Supporting Variants
Samples
Known GenesKLK3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17725342
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