A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4854n54



Internal ID18997030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:1478386..1510110hg38UCSC Ensembl
chr16:1528387..1560111hg19UCSC Ensembl
chr16:1468388..1500112hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3831725
hg1931725
hg1831725
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv571164, nsv571163
SamplesHGDP00546
Known GenesPTX4, TELO2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv4854n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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