A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044721



Internal ID19133940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19230949..19922383hg38UCSC Ensembl
Innerchr14:19790343..20390542hg19UCSC Ensembl
Innerchr14:18860343..19460382hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38691435
hg19600200
hg18600040
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1768n100
Supporting Variantsnssv3530928
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)nsv1044721
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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