A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047679



Internal ID19136898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19732946..19952068hg38UCSC Ensembl
Innerchr14:20201105..20420227hg19UCSC Ensembl
Innerchr14:19270945..19490067hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38219123
hg19219123
hg18219123
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1778n100
Supporting Variantsnssv3530639
Samples
Known GenesOR4K1, 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)nsv1047679
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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