A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3054n100



Internal ID20154670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:83519838..83940461hg38UCSC Ensembl
chr16:83553443..83974066hg19UCSC Ensembl
chr16:82110944..82531567hg18UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg38420624
hg19420624
hg18420624
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1061740, nsv1055728
Samples
Known GenesCDH13, HSBP1, MLYCD
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3054n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer