A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4990n54



Internal ID20138414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:31205588..31216587hg38UCSC Ensembl
chr16:31216909..31227908hg19UCSC Ensembl
chr16:31124410..31135409hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3811000
hg1911000
hg1811000
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv571823, nsv571822, nsv571821
Samples
Known GenesPYDC1, TRIM72
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv4990n54
Frequency
Sample Size17421
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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