A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8043n54



Internal ID20141467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:23579240..23652869hg38UCSC Ensembl
chr22:23921427..23995056hg19UCSC Ensembl
chr22:22251427..22325056hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3873630
hg1973630
hg1873630
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv588620, nsv588621, nsv588622
SamplesHGDP00473
Known GenesC22orf43, GUSBP11, IGLL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8043n54
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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