A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5458884



Internal ID236904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:42711493..42711652hg38UCSC Ensembl
chr6:42679231..42679390hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38160
hg19160
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16983203
Samples
Known GenesPRPH2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5458884
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