A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17010232



Internal ID74454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:22247480..22247768hg38UCSC Ensembl
chr8:22104993..22105281hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38289
hg19289
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5480581
Supporting Variants
Samples
Known GenesPOLR3D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17010232
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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