A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041816



Internal ID19131035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18605720..19785621hg38UCSC Ensembl
Innerchr14:19382197..20253780hg19UCSC Ensembl
Innerchr14:18452197..19323620hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg381179902
hg19871584
hg18871424
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1759n100
Supporting Variantsnssv3526998
Samples
Known GenesBMS1P17, BMS1P18, LOC642426, 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)nsv1041816
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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