A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049258



Internal ID19138477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19791588..19918633hg38UCSC Ensembl
Innerchr14:20259747..20386792hg19UCSC Ensembl
Innerchr14:19329587..19456632hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38127046
hg19127046
hg18127046
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1784n100
Supporting Variantsnssv3530681
Samples
Known GenesOR4K2, OR4N2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049258
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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