A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv954451



Internal ID16248407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25273175..25518626hg38UCSC Ensembl
Innerchr22:25669142..25914593hg19UCSC Ensembl
Innerchr22:23999142..24244593hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38245452
hg19245452
hg18245452
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv588809
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)nssv954451
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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