A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053281



Internal ID18795812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73518500..74050155hg38UCSC Ensembl
Innerchr14:73985204..74516858hg19UCSC Ensembl
Innerchr14:73054957..73586611hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38531656
hg19531655
hg18531655
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3531151
Samples
Known GenesACOT1, ACOT2, ACOT4, ACOT6, CCDC176, COQ6, DNAL1, ELMSAN1, ENTPD5, FAM161B, HEATR4, MIR4505, PNMA1, PTGR2, ZNF410
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1053281
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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