A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv311n145



Internal ID22813327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:18490134..19954068hg38UCSC Ensembl
chr14:19266611..20422227hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg381463935
hg191155617
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3117941, nsv3115920, nsv3114111, nsv3114176, nsv3110410
Samplessample359, sample170, sample244, sample24, sample188, sample26
Known GenesBMS1P17, BMS1P18, LOC642426, OR11H12, OR11H2, OR4K1, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3, POTEG, POTEM
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)dgv311n145
Frequency
Sample Size467
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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