A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17026764



Internal ID85569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:109959589..110304026hg38UCSC Ensembl
chr9:112721869..113066306hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38344438
hg19344438
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5491597
Supporting Variants
Samples
Known GenesAKAP2, C9orf152, PALM2-AKAP2, TXN, TXNDC8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17026764
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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