A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046222



Internal ID19135441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18676837..19988275hg38UCSC Ensembl
Innerchr14:19453314..20456434hg19UCSC Ensembl
Innerchr14:18523314..19526274hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg381311439
hg191003121
hg181002961
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1759n100
Supporting Variantsnssv3528134
Samples
Known GenesBMS1P17, BMS1P18, OR11H2, OR4K1, OR4K15, OR4K2, OR4K5, OR4M1, OR4N2, 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)nsv1046222
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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