A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046991



Internal ID19136210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18639702..19951100hg38UCSC Ensembl
Innerchr14:19416179..20419259hg19UCSC Ensembl
Innerchr14:18486179..19489099hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg381311399
hg191003081
hg181002921
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1759n100
Supporting Variantsnssv3527090, nssv3713421, nssv3713422
Samples
Known GenesBMS1P17, BMS1P18, OR11H2, OR4K1, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3, POTEG, POTEM
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046991
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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