A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5474776



Internal ID252427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:52034000..52040368hg38UCSC Ensembl
chr10:53793760..53800128hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg386369
hg196369
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17034220
Samples
Known GenesPRKG1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5474776
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