A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1039814



Internal ID18782345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:23945076..24020217hg38UCSC Ensembl
Innerchr14:24414285..24489426hg19UCSC Ensembl
Innerchr14:23484125..23559266hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3875142
hg1975142
hg1875142
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1838n100
Supporting Variantsnssv3533816
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)nsv1039814
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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