A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044452



Internal ID19133671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19230949..19952068hg38UCSC Ensembl
Innerchr14:19795573..20420227hg19UCSC Ensembl
Innerchr14:18865573..19490067hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38721120
hg19624655
hg18624495
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1768n100
Supporting Variantsnssv3527268
Samples
Known GenesBMS1P17, BMS1P18, OR11H2, OR4K1, 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)nsv1044452
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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