A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3533839



Internal ID18832120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:23957385..24015250hg38UCSC Ensembl
Innerchr14:24426594..24484459hg19UCSC Ensembl
Innerchr14:23496434..23554299hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3857866
hg1957866
hg1857866
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1047997
Supporting Variants
Samples
Known GenesDHRS4, 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)nssv3533839
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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