A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054290



Internal ID19143509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19289347..19945687hg38UCSC Ensembl
Innerchr14:19877060..20413846hg19UCSC Ensembl
Innerchr14:18947060..19483686hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38656341
hg19536787
hg18536627
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1768n100
Supporting Variantsnssv3527363
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)nsv1054290
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