A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047801



Internal ID19137020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19110155..19952068hg38UCSC Ensembl
Innerchr14:19697873..20420227hg19UCSC Ensembl
Innerchr14:18767873..19490067hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38841914
hg19722355
hg18722195
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1766n100
Supporting Variantsnssv3530889, nssv3530883, nssv3530887, nssv3530886, nssv3530888, nssv3530885, nssv3530884
Samples
Known GenesBMS1P17, BMS1P18, OR11H2, OR4K1, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3, POTEM
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047801
Frequency
Sample Size11257
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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