A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017312



Internal ID18759847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:20892953..21122463hg38UCSC Ensembl
Innerchr9:20892952..21122462hg19UCSC Ensembl
Innerchr9:20882952..21112462hg18UCSC Ensembl
Cytoband9p21.3
Allele length
AssemblyAllele length
hg38229511
hg19229511
hg18229511
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3755834
Samples
Known GenesFOCAD, IFNB1, PTPLAD2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1017312
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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