A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040692



Internal ID19129911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19637241..19956767hg38UCSC Ensembl
Innerchr14:20105479..20424926hg19UCSC Ensembl
Innerchr14:19175240..19494766hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38319527
hg19319448
hg18319527
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1775n100
Supporting Variantsnssv3528739, nssv3528744, nssv3528745, nssv3528741, nssv3528743, nssv3528742, nssv3528740
Samples
Known GenesOR11H2, OR4K1, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040692
Frequency
Sample Size11257
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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