A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6432284



Internal ID21089837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:17925107..18663399hg38UCSC Ensembl
chr8:17782616..18520909hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38738293
hg19738294
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18230031
Samples
Known GenesASAH1, NAT1, NAT2, PCM1, PSD3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6432284
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer