A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1848n100



Internal ID22787935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:24005302..24053238hg38UCSC Ensembl
chr14:24474511..24522447hg19UCSC Ensembl
chr14:23544351..23592287hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3847937
hg1947937
hg1847937
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1052857, nsv1049192, nsv1048292, nsv1037929
Samples
Known GenesDHRS4L1, DHRS4L2, LRRC16B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1848n100
Frequency
Sample Size11257
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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