A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588107



Internal ID16028830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:17659737..17661069hg38UCSC Ensembl
Innerchr22:18142503..18143835hg19UCSC Ensembl
Innerchr22:16522503..16523835hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg381333
hg191333
hg181333
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv951402
Samples
Known GenesBCL2L13
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588107
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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