A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053511



Internal ID19142730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18559262..19791792hg38UCSC Ensembl
Innerchr14:19335739..20259951hg19UCSC Ensembl
Innerchr14:18405739..19329791hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg381232531
hg19924213
hg18924053
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1759n100
Supporting Variantsnssv3526954, nssv3526955
Samples
Known GenesBMS1P17, BMS1P18, LOC642426, OR11H12, OR11H2, OR4M1, 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)nsv1053511
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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