A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040399



Internal ID18782930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18225635..19908283hg38UCSC Ensembl
Innerchr14:19002112..20376442hg19UCSC Ensembl
Innerchr14:18072112..19446282hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg381682649
hg191374331
hg181374171
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1753n100
Supporting Variantsnssv3526863
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)nsv1040399
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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