A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588339



Internal ID16029062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21974019..22219245hg38UCSC Ensembl
Innerchr22:22328391..22573637hg19UCSC Ensembl
Innerchr22:20658391..20903637hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38245227
hg19245247
hg18245247
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7998n54
Supporting Variantsnssv1151474
Samples1798860049_A
Known GenesTOP3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588339
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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