A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042420



Internal ID19131639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19289347..19952068hg38UCSC Ensembl
Innerchr14:19877060..20420227hg19UCSC Ensembl
Innerchr14:18947060..19490067hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38662722
hg19543168
hg18543008
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1768n100
Supporting Variantsnssv3527364
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)nsv1042420
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