A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588808



Internal ID16376217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25273175..25514700hg38UCSC Ensembl
Innerchr22:25669142..25910667hg19UCSC Ensembl
Innerchr22:23999142..24240667hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38241526
hg19241526
hg18241526
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8075n54
Supporting Variantsnssv954449, nssv954450
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)nsv588808
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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