A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048422



Internal ID19137641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:54554865..54743970hg38UCSC Ensembl
Innerchr11:51375310..51564415hg19UCSC Ensembl
Innerchr11:51231886..51420991hg18UCSC Ensembl
Cytoband11p11.11
Allele length
AssemblyAllele length
hg38189106
hg19189106
hg18189106
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1157n100
Supporting Variantsnssv3712389, nssv3518112, nssv3512275, nssv3712388, nssv3712387
Samples
Known GenesOR4A5, OR4C46
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048422
Frequency
Sample Size11257
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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