A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047940



Internal ID19137159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19732012..19951100hg38UCSC Ensembl
Innerchr14:20200171..20419259hg19UCSC Ensembl
Innerchr14:19270011..19489099hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38219089
hg19219089
hg18219089
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1778n100
Supporting Variantsnssv3711999, nssv3711998
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)nsv1047940
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer