A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17046982



Internal ID99162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:57376680..57380318hg38UCSC Ensembl
chr11:57144153..57147791hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg383639
hg193639
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5501031
Supporting Variants
Samples
Known GenesPRG3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17046982
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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