A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv589213



Internal ID16376622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:50343738..50347021hg38UCSC Ensembl
Innerchr22:50782167..50785450hg19UCSC Ensembl
Innerchr22:49129033..49132316hg18UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg383284
hg193284
hg183284
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8138n54
Supporting Variantsnssv957517, nssv957516, nssv957526, nssv957528, nssv957501, nssv957507, nssv957503, nssv957520, nssv957519, nssv957508, nssv957522, nssv957506, nssv957513, nssv957515, nssv957505, nssv957498, nssv957502, nssv957514, nssv957524, nssv957504, nssv957527, nssv957499, nssv957521, nssv957529, nssv957518, nssv957509, nssv957500, nssv957512, nssv957525, nssv957523, nssv957511, nssv957510, nssv957497
Samples
Known GenesPPP6R2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv589213
Frequency
Sample Size17421
Observed Gain24
Observed Loss9
Observed Complex0
Frequencyn/a


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