A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17034769



Internal ID90903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:50991680..50991791hg38UCSC Ensembl
chr10:52751440..52751551hg19UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5492358
Supporting Variants
Samples
Known GenesPRKG1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17034769
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