A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046372



Internal ID19135591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18639702..19847551hg38UCSC Ensembl
Innerchr14:19416179..20315710hg19UCSC Ensembl
Innerchr14:18486179..19385550hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg381207850
hg19899532
hg18899372
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1759n100
Supporting Variantsnssv3527074, nssv3527075
Samples
Known GenesBMS1P17, BMS1P18, OR11H2, 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)nsv1046372
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