A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048111



Internal ID19137330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19732012..19951992hg38UCSC Ensembl
Innerchr14:20200171..20420151hg19UCSC Ensembl
Innerchr14:19270011..19489991hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38219981
hg19219981
hg18219981
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1778n100
Supporting Variantsnssv3528794
Samples
Known GenesOR4K1, OR4K2, OR4K5, 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)nsv1048111
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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