A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052494



Internal ID18795025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18225635..19864638hg38UCSC Ensembl
Innerchr14:19002112..20332797hg19UCSC Ensembl
Innerchr14:18072112..19402637hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg381639004
hg191330686
hg181330526
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1753n100
Supporting Variantsnssv3526861
Samples
Known GenesBMS1P17, BMS1P18, LOC642426, OR11H12, OR11H2, 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)nsv1052494
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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