A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040070



Internal ID19129289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19637241..19945687hg38UCSC Ensembl
Innerchr14:20105479..20413846hg19UCSC Ensembl
Innerchr14:19175240..19483686hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38308447
hg19308368
hg18308447
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1775n100
Supporting Variantsnssv3527471, nssv3711194, nssv3527469, nssv3527470, nssv3711193, nssv3711192, nssv3527474, nssv3711195, nssv3527473, nssv3527472
Samples
Known GenesOR11H2, OR4K1, 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)nsv1040070
Frequency
Sample Size11257
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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