A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048402



Internal ID18790933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:54953335..55380687hg38UCSC Ensembl
Innerchr11:54720811..55148163hg19UCSC Ensembl
Innerchr11:54477387..54904739hg18UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg38427353
hg19427353
hg18427353
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1164n100
Supporting Variantsnssv3712391
Samples
Known GenesOR4A15, OR4A16, TRIM48, TRIM51HP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048402
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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