A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv517n206



Internal ID22755821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:252267..544448hg38UCSC Ensembl
chr9:252267..544448hg19UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38292182
hg19292182
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv5492429, nsv5479332
Samples
Known GenesDOCK8, KANK1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)dgv517n206
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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