A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588785



Internal ID16029508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25265758..25529111hg38UCSC Ensembl
Innerchr22:25661725..25925078hg19UCSC Ensembl
Innerchr22:23991725..24255078hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38263354
hg19263354
hg18263354
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8071n54
Supporting Variantsnssv954390
Samples
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588785
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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