A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048472



Internal ID18791003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18225635..19956767hg38UCSC Ensembl
Innerchr14:19002112..20424926hg19UCSC Ensembl
Innerchr14:18072112..19494766hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg381731133
hg191422815
hg181422655
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1753n100
Supporting Variantsnssv3526894, nssv3526892, nssv3526893
Samples
Known GenesBMS1P17, BMS1P18, LOC642426, OR11H12, OR11H2, OR4K1, 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)nsv1048472
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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