A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv954378



Internal ID15901648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25265758..25513844hg38UCSC Ensembl
Innerchr22:25661725..25909811hg19UCSC Ensembl
Innerchr22:23991725..24239811hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38248087
hg19248087
hg18248087
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv588780
Supporting Variants
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)nssv954378
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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