A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv951431



Internal ID15898701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:17659737..17662058hg38UCSC Ensembl
Innerchr22:18142503..18144824hg19UCSC Ensembl
Innerchr22:16522503..16524824hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg382322
hg192322
hg182322
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv588109
Supporting Variants
Samples
Known GenesBCL2L13
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv951431
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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