A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054251



Internal ID19143470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19732012..19918633hg38UCSC Ensembl
Innerchr14:20200171..20386792hg19UCSC Ensembl
Innerchr14:19270011..19456632hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38186622
hg19186622
hg18186622
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1778n100
Supporting Variantsnssv3528754
Samples
Known GenesOR4K2, OR4M1, OR4N2, OR4Q3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054251
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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