A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588797



Internal ID16376206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25268441..25514348hg38UCSC Ensembl
Innerchr22:25664408..25910315hg19UCSC Ensembl
Innerchr22:23994408..24240315hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38245908
hg19245908
hg18245908
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8075n54
Supporting Variantsnssv954409
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)nsv588797
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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