A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588669



Internal ID16029392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23932588..24001082hg38UCSC Ensembl
Innerchr22:24274775..24364066hg19UCSC Ensembl
Innerchr22:22604775..22694066hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3868495
hg1989292
hg1889292
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv953501
Samples
Known GenesDDT, DDTL, GSTT2, GSTT2B, GSTTP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588669
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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