A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5111n54



Internal ID22773006
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+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv572552, nsv572544
Samples
Known GenesMIR548AE2, SIAH1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5111n54
Frequency
Sample Size17421
Observed Gain4
Observed Loss2
Observed Complex0
Frequencyn/a


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