A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051271



Internal ID18793802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18225635..19915639hg38UCSC Ensembl
Innerchr14:19002112..20383798hg19UCSC Ensembl
Innerchr14:18072112..19453638hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg381690005
hg191381687
hg181381527
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1753n100
Supporting Variantsnssv3526864, nssv3526865
Samples
Known GenesBMS1P17, BMS1P18, LOC642426, OR11H12, OR11H2, OR4K2, OR4M1, OR4N2, 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)nsv1051271
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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