A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048927



Internal ID19138146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19732012..19926956hg38UCSC Ensembl
Innerchr14:20200171..20395115hg19UCSC Ensembl
Innerchr14:19270011..19464955hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38194945
hg19194945
hg18194945
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1778n100
Supporting Variantsnssv3711978, nssv3711977, nssv3711979, nssv3528756, nssv3711981, nssv3711980, nssv3528755
Samples
Known GenesOR4K2, 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)nsv1048927
Frequency
Sample Size11257
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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