A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3531160



Internal ID18482755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73957079..74072003hg38UCSC Ensembl
Innerchr14:74423782..74538706hg19UCSC Ensembl
Innerchr14:73493535..73608459hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38114925
hg19114925
hg18114925
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1045075
Supporting Variants
Samples
Known GenesALDH6A1, CCDC176, COQ6, ENTPD5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3531160
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