A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050003



Internal ID19139222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18559262..19749402hg38UCSC Ensembl
Innerchr14:19335739..20217561hg19UCSC Ensembl
Innerchr14:18405739..19287401hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg381190141
hg19881823
hg18881663
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1759n100
Supporting Variantsnssv3526953
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)nsv1050003
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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