A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588778



Internal ID16029501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25265758..25512474hg38UCSC Ensembl
Innerchr22:25661725..25908441hg19UCSC Ensembl
Innerchr22:23991725..24238441hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38246717
hg19246717
hg18246717
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8071n54
Supporting Variantsnssv954374
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)nsv588778
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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