A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9893



Internal ID15501119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:25565531..25574848hg38UCSC Ensembl
Outerchr22:25961498..25970815hg19UCSC Ensembl
Outerchr22:24291498..24300815hg18UCSC Ensembl
Outerchr22:24286052..24295369hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg389318
hg199318
hg189318
hg179318
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv27888
SamplesNA18972
Known GenesADRBK2
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nsv9893
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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