A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5431808



Internal ID210574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:2094433..2123770hg38UCSC Ensembl
chr1:2025872..2055209hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3829338
hg1929338
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16900531
Samples
Known GenesPRKCZ
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5431808
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