A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054019



Internal ID19143238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18559262..19764467hg38UCSC Ensembl
Innerchr14:19335739..20232626hg19UCSC Ensembl
Innerchr14:18405739..19302466hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg381205206
hg19896888
hg18896728
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1759n100
Supporting Variantsnssv3713384
Samples
Known GenesBMS1P17, BMS1P18, LOC642426, OR11H12, OR11H2, OR4Q3, POTEG, POTEM
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054019
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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