A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8116n54



Internal ID22776011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:42375220..42488991hg38UCSC Ensembl
chr22:42771226..42884997hg19UCSC Ensembl
chr22:41101170..41214941hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38113772
hg19113772
hg18113772
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv589066, nsv589069, nsv589067, nsv589068
Samples
Known GenesNFAM1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8116n54
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