A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050516



Internal ID19139735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19791588..19908283hg38UCSC Ensembl
Innerchr14:20259747..20376442hg19UCSC Ensembl
Innerchr14:19329587..19446282hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38116696
hg19116696
hg18116696
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1784n100
Supporting Variantsnssv3530680, nssv3530679
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)nsv1050516
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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