A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520054



Internal ID15447347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:20052901..20110085hg38UCSC Ensembl
Innerchr14:20521060..20578244hg19UCSC Ensembl
Innerchr14:19590900..19648084hg18UCSC Ensembl
Innerchr14:19590900..19648084hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3857185
hg1957185
hg1857185
hg1757185
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv122n21
Supporting Variantsnssv674302, nssv686308, nssv685555, nssv671704, nssv686944, nssv687289, nssv672808, nssv701968, nssv692485, nssv702428, nssv686335, nssv660330
Samples
Known GenesOR4L1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520054
Frequency
Sample Size2026
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer