A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047546



Internal ID19136765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19256386..19926956hg38UCSC Ensembl
Innerchr14:19844095..20395115hg19UCSC Ensembl
Innerchr14:18914095..19464955hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38670571
hg19551021
hg18550861
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1768n100
Supporting Variantsnssv3527330, nssv3527331
Samples
Known GenesBMS1P17, BMS1P18, OR11H2, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3, POTEM
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047546
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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