A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588329



Internal ID16029052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21960091..22133629hg38UCSC Ensembl
Innerchr22:22314463..22488022hg19UCSC Ensembl
Innerchr22:20644463..20818022hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38173539
hg19173560
hg18173560
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7999n54
Supporting Variantsnssv951980
Samples
Known GenesTOP3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588329
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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