A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3684186



Internal ID18635781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:18071966..18557180hg38UCSC Ensembl
Innerchr8:17929475..18414690hg19UCSC Ensembl
Innerchr8:17973755..18458970hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38485215
hg19485216
hg18485216
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1026366
Supporting Variants
Samples
Known GenesASAH1, NAT1, NAT2, PSD3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3684186
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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