A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041056



Internal ID18783587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18225635..19799717hg38UCSC Ensembl
Innerchr14:19002112..20267876hg19UCSC Ensembl
Innerchr14:18072112..19337716hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg381574083
hg191265765
hg181265605
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1753n100
Supporting Variantsnssv3526853
Samples
Known GenesBMS1P17, BMS1P18, LOC642426, OR11H12, OR11H2, OR4M1, 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)nsv1041056
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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