A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6007683



Internal ID21917026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:22247480..22247768hg38UCSC Ensembl
chr8:22104993..22105281hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38289
hg19289
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17570792
Samples
Known GenesPOLR3D
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6007683
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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