A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12443n54



Internal ID20145867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144502322..144518490hg38UCSC Ensembl
chr8:145727705..145743874hg19UCSC Ensembl
chr8:145698513..145714682hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3816169
hg1916170
hg1816170
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv612959, nsv612961, nsv612963, nsv612960
Samples
Known GenesGPT, LRRC14, MFSD3, RECQL4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12443n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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