A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5492429



Internal ID269640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:321826..544448hg38UCSC Ensembl
chr9:321826..544448hg19UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38222623
hg19222623
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv517n206
Supporting Variantsnssv17019521
Samples
Known GenesDOCK8, KANK1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5492429
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