A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv954404



Internal ID16248360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25268441..25513844hg38UCSC Ensembl
Innerchr22:25664408..25909811hg19UCSC Ensembl
Innerchr22:23994408..24239811hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38245404
hg19245404
hg18245404
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv588796
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)nssv954404
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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