A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588245



Internal ID16028968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:20042355..20084214hg38UCSC Ensembl
Innerchr22:20029878..20071737hg19UCSC Ensembl
Innerchr22:18409878..18451737hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3841860
hg1941860
hg1841860
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7985n54
Supporting Variantsnssv951877, nssv951878
Samples
Known GenesDGCR8, TANGO2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588245
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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