A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044814



Internal ID19134033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18676837..19749402hg38UCSC Ensembl
Innerchr14:19453314..20217561hg19UCSC Ensembl
Innerchr14:18523314..19287401hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg381072566
hg19764248
hg18764088
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1759n100
Supporting Variantsnssv3528092
Samples
Known GenesBMS1P17, BMS1P18, OR11H2, 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)nsv1044814
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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