A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588118



Internal ID16028841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:17660282..17662058hg38UCSC Ensembl
Innerchr22:18143048..18144824hg19UCSC Ensembl
Innerchr22:16523048..16524824hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg381777
hg191777
hg181777
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7957n54
Supporting Variantsnssv951500, nssv951501, nssv951502
Samples
Known GenesBCL2L13
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588118
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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