A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066637



Internal ID18809168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:40803306..41091991hg38UCSC Ensembl
Innerchr19:41309211..41597896hg19UCSC Ensembl
Innerchr19:46001051..46289736hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38288686
hg19288686
hg18288686
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3568219
Samples
Known GenesCYP2A13, CYP2A6, CYP2A7, CYP2B6, CYP2B7P, CYP2G1P, EGLN2, RAB4B-EGLN2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1066637
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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