A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588332



Internal ID16029055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21960940..22201167hg38UCSC Ensembl
Innerchr22:22315312..22555561hg19UCSC Ensembl
Innerchr22:20645312..20885561hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38240228
hg19240250
hg18240250
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7997n54
Supporting Variantsnssv951981, nssv951982
Samples
Known GenesTOP3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588332
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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