A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8072n54



Internal ID22775967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:25236299..25447917hg38UCSC Ensembl
chr22:25632266..25843884hg19UCSC Ensembl
chr22:23962266..24173884hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38211619
hg19211619
hg18211619
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv588777, nsv588776, nsv588762, nsv588763, nsv588775
SamplesNINDS_39
Known GenesIGLL3P, LRP5L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8072n54
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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