A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054721



Internal ID19143940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19886146..19952068hg38UCSC Ensembl
Innerchr14:20354305..20420227hg19UCSC Ensembl
Innerchr14:19424145..19490067hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3865923
hg1965923
hg1865923
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1790n100
Supporting Variantsnssv3530711
Samples
Known GenesOR4K1, OR4K5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054721
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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