A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588108



Internal ID16028831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:17659737..17661549hg38UCSC Ensembl
Innerchr22:18142503..18144315hg19UCSC Ensembl
Innerchr22:16522503..16524315hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg381813
hg191813
hg181813
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7955n54
Supporting Variantsnssv951417, nssv951404, nssv951411, nssv951410, nssv951424, nssv951422, nssv951420, nssv951405, nssv951427, nssv951406, nssv951421, nssv951407, nssv951426, nssv951419, nssv951414, nssv951409, nssv951413, nssv951428, nssv951418, nssv951408, nssv951416, nssv951412, nssv951403, nssv951423, nssv951425, nssv951415
Samples
Known GenesBCL2L13
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588108
Frequency
Sample Size17421
Observed Gain1
Observed Loss25
Observed Complex0
Frequencyn/a


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