A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588331



Internal ID16029054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21960091..22225408hg38UCSC Ensembl
Innerchr22:22314463..22579801hg19UCSC Ensembl
Innerchr22:20644463..20909801hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38265318
hg19265339
hg18265339
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7997n54
Supporting Variantsnssv1151471
SamplesHGDP01396
Known GenesTOP3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588331
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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