A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050548



Internal ID18793079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:48206945..48785844hg38UCSC Ensembl
Innerchr11:48228497..48807396hg19UCSC Ensembl
Innerchr11:48185073..48763972hg18UCSC Ensembl
Cytoband11p11.12
Allele length
AssemblyAllele length
hg38578900
hg19578900
hg18578900
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1112n100
Supporting Variantsnssv3521012
Samples
Known GenesOR4A47, OR4B1, OR4C3, OR4C45, OR4S1, OR4X1, OR4X2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050548
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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