A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053031



Internal ID19142250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19230949..19785621hg38UCSC Ensembl
Innerchr14:19802529..20253780hg19UCSC Ensembl
Innerchr14:18872529..19323620hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38554673
hg19451252
hg18451092
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1770n100
Supporting Variantsnssv3527298, nssv3527299
Samples
Known GenesBMS1P17, BMS1P18, OR11H2, OR4M1, 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)nsv1053031
Frequency
Sample Size11257
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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