A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588651



Internal ID16029374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23927243..24001082hg38UCSC Ensembl
Innerchr22:24269430..24344335hg19UCSC Ensembl
Innerchr22:22599430..22674335hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3873840
hg1974906
hg1874906
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv952811
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)nsv588651
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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