A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050303



Internal ID18792834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18225635..19169707hg38UCSC Ensembl
Innerchr14:19002112..19790343hg19UCSC Ensembl
Innerchr14:18072112..18860343hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38944073
hg19788232
hg18788232
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1749n100
Supporting Variantsnssv3526831
Samples
Known GenesBMS1P17, BMS1P18, LOC642426, OR11H12, POTEG
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050303
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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