A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588344



Internal ID16029067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21981242..22219245hg38UCSC Ensembl
Innerchr22:22335639..22573637hg19UCSC Ensembl
Innerchr22:20665639..20903637hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38238004
hg19237999
hg18237999
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7997n54
Supporting Variantsnssv1151475
Samples1780854100_A
Known GenesTOP3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588344
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