A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5483905



Internal ID261331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:129698067..130033998hg38UCSC Ensembl
chr9:132460346..132796277hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg38335932
hg19335932
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17028868
Samples
Known GenesC9orf78, FNBP1, MIR6855, PRRX2, PTGES, TOR1A, TOR1B, USP20
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5483905
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