A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv951983



Internal ID15899253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21960940..22208485hg38UCSC Ensembl
Innerchr22:22315312..22562874hg19UCSC Ensembl
Innerchr22:20645312..20892874hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38247546
hg19247563
hg18247563
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv588333
Supporting Variants
Samples
Known GenesTOP3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv951983
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