A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047368



Internal ID18789899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18225635..19169707hg38UCSC Ensembl
Innerchr14:19002112..19796172hg19UCSC Ensembl
Innerchr14:18072112..18866172hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38944073
hg19794061
hg18794061
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1750n100
Supporting Variantsnssv3526834, nssv3526833, nssv3526835, nssv3526832
Samples
Known GenesBMS1P17, BMS1P18, LOC642426, OR11H12, POTEG
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047368
Frequency
Sample Size29084
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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