A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11848n54



Internal ID20145272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:2320544..3445528hg38UCSC Ensembl
chr8:2266596..3303050hg19UCSC Ensembl
chr8:2254003..3290458hg18UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg381124985
hg191036455
hg181036456
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv609696, nsv609665
Samples
Known GenesCSMD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11848n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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