A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5112n54



Internal ID22773007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:48384594..48385751hg38UCSC Ensembl
chr16:48418505..48419662hg19UCSC Ensembl
chr16:46976006..46977163hg18UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg381158
hg191158
hg181158
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv572550, nsv572545, nsv572547, nsv572554, nsv572549, nsv572548
Samples
Known GenesMIR548AE2, SIAH1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5112n54
Frequency
Sample Size17421
Observed Gain22
Observed Loss0
Observed Complex0
Frequencyn/a


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