A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047681



Internal ID19136900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19861606..19954424hg38UCSC Ensembl
Innerchr14:20329765..20422583hg19UCSC Ensembl
Innerchr14:19399605..19492423hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3892819
hg1992819
hg1892819
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1789n100
Supporting Variantsnssv3712120
Samples
Known GenesOR4K1, OR4K2, OR4K5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047681
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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