A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047997



Internal ID19137216
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+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1840n100
Supporting Variantsnssv3533841, nssv3533834, nssv3533839, nssv3533835, nssv3533838, nssv3533840, nssv3533837, nssv3533836, nssv3533833
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)nsv1047997
Frequency
Sample Size11257
Observed Gain1
Observed Loss8
Observed Complex0
Frequencyn/a


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