A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv589211



Internal ID16029934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:50343738..50346868hg38UCSC Ensembl
Innerchr22:50782167..50785297hg19UCSC Ensembl
Innerchr22:49129033..49132163hg18UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg383131
hg193131
hg183131
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8138n54
Supporting Variantsnssv957447, nssv957486, nssv957480, nssv957443, nssv957451, nssv957477, nssv957483, nssv957454, nssv957441, nssv957453, nssv957465, nssv957479, nssv957437, nssv957439, nssv957484, nssv957482, nssv957468, nssv957459, nssv957481, nssv957457, nssv957463, nssv957467, nssv957475, nssv957445, nssv957444, nssv957471, nssv957452, nssv957446, nssv957458, nssv957461, nssv957442, nssv957476, nssv957460, nssv957478, nssv957456, nssv957448, nssv957455, nssv957487, nssv957436, nssv957432, nssv957490, nssv957450, nssv957485, nssv957433, nssv957440, nssv957489, nssv957473, nssv957434, nssv957462, nssv957435, nssv957474, nssv957449, nssv957438, nssv957464, nssv957469, nssv957470, nssv957466, nssv957488, nssv957472, nssv957431
Samples
Known GenesPPP6R2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv589211
Frequency
Sample Size17421
Observed Gain46
Observed Loss14
Observed Complex0
Frequencyn/a


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