A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv589212



Internal ID16376621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:50343738..50346946hg38UCSC Ensembl
Innerchr22:50782167..50785375hg19UCSC Ensembl
Innerchr22:49129033..49132241hg18UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg383209
hg193209
hg183209
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8138n54
Supporting Variantsnssv957495, nssv957491, nssv957496, nssv957494, nssv957493, nssv957492
Samples
Known GenesPPP6R2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv589212
Frequency
Sample Size17421
Observed Gain1
Observed Loss5
Observed Complex0
Frequencyn/a


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