A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5519294



Internal ID295646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:69710106..69714771hg38UCSC Ensembl
chr16:69744009..69748674hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg384666
hg194666
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17707136
Samples
Known GenesNQO1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5519294
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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