A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17709479



Internal ID133145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:57469295..57469658hg38UCSC Ensembl
chr16:57503207..57503570hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg38364
hg19364
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5523167
Supporting Variants
Samples
Known GenesPOLR2C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17709479
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.004059


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