A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1838n100



Internal ID20153454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:23945076..24031780hg38UCSC Ensembl
chr14:24414285..24500989hg19UCSC Ensembl
chr14:23484125..23570829hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3886705
hg1986705
hg1886705
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1039814, nsv1045802, nsv1047294, nsv1054976, nsv1039694, nsv1051259
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)dgv1838n100
Frequency
Sample Size29084
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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