A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041547



Internal ID19130766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18497136..19773693hg38UCSC Ensembl
Innerchr14:19273613..20241852hg19UCSC Ensembl
Innerchr14:18343613..19311692hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg381276558
hg19968240
hg18968080
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1757n100
Supporting Variantsnssv3526910
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)nsv1041547
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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