A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17053420



Internal ID103459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:125239646..125239723hg38UCSC Ensembl
chr11:125109542..125109619hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5497348
Supporting Variants
Samples
Known GenesPKNOX2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17053420
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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