A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17008450



Internal ID73261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:16438282..17016586hg38UCSC Ensembl
chr8:16295791..16874095hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38578305
hg19578305
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5487076
Supporting Variants
Samples
Known GenesFGF20
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17008450
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