A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5554173



Internal ID327369
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 StatusM
Merged Variants
Supporting Variantsnssv17007566
Samples
Known GenesASAH1, NAT1
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5554173
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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