A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052668



Internal ID19141887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18639702..19289336hg38UCSC Ensembl
Innerchr14:19416179..19877060hg19UCSC Ensembl
Innerchr14:18486179..18947060hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38649635
hg19460882
hg18460882
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1754n100
Supporting Variantsnssv3527037, nssv3527038, nssv3527036, nssv3713410
Samples
Known GenesBMS1P17, BMS1P18, POTEG
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1052668
Frequency
Sample Size11257
Observed Gain1
Observed Loss3
Observed Complex0
Frequencyn/a


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