A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5514959



Internal ID291447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:10369981..10370093hg38UCSC Ensembl
chr19:10480657..10480769hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17721309
Samples
Known GenesTYK2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5514959
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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