A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17039947



Internal ID94352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:102733295..102736615hg38UCSC Ensembl
chr10:104493052..104496372hg19UCSC Ensembl
Cytoband10q24.32
Allele length
AssemblyAllele length
hg383321
hg193321
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5508559
Supporting Variants
Samples
Known GenesSFXN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17039947
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