A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17007566



Internal ID72678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:18056323..18286790hg38UCSC Ensembl
chr8:17913832..18144299hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38230468
hg19230468
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5554173
Supporting Variants
Samples
Known GenesASAH1, NAT1
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17007566
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000156


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