A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv589161



Internal ID16029884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:48497775..48499962hg38UCSC Ensembl
Innerchr22:48893587..48895774hg19UCSC Ensembl
Innerchr22:47272251..47274438hg18UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg382188
hg192188
hg182188
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8128n54
Supporting Variantsnssv957289
Samples
Known GenesFAM19A5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv589161
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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