A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053315



Internal ID18795846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18225635..19749402hg38UCSC Ensembl
Innerchr14:19002112..20217561hg19UCSC Ensembl
Innerchr14:18072112..19287401hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg381523768
hg191215450
hg181215290
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1753n100
Supporting Variantsnssv3713354, nssv3526850
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)nsv1053315
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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