A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17043254



Internal ID96546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:6314207..6321203hg38UCSC Ensembl
chr11:6335437..6342433hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg386997
hg196997
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5505016
Supporting Variants
Samples
Known GenesPRKCDBP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17043254
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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