A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18230074



Internal ID20797114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:18067628..18560167hg38UCSC Ensembl
chr8:17925137..18417677hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38492540
hg19492541
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6422499
Supporting Variants
Samples
Known GenesASAH1, NAT1, NAT2, PSD3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18230074
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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