A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5189n54



Internal ID20138613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:75505538..75554068hg38UCSC Ensembl
chr16:75539436..75587966hg19UCSC Ensembl
chr16:74096937..74145467hg18UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3848531
hg1948531
hg1848531
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv572982, nsv572987, nsv572985, nsv572983, nsv572986, nsv572984
SamplesHGDP00912, HGDP00738, HGDP00913, HGDP00924, HGDP00017
Known GenesCHST5, TMEM231
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5189n54
Frequency
Sample Size17421
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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