A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047294



Internal ID18789825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:23945076..24031424hg38UCSC Ensembl
Innerchr14:24414285..24500633hg19UCSC Ensembl
Innerchr14:23484125..23570473hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3886349
hg1986349
hg1886349
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1838n100
Supporting Variantsnssv3533817
Samples
Known GenesDHRS4, DHRS4-AS1, DHRS4L1, DHRS4L2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047294
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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