A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27888



Internal ID15493147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25566087..25573345hg38UCSC Ensembl
Outerchr22:25565531..25574848hg38UCSC Ensembl
Innerchr22:25962054..25969312hg19UCSC Ensembl
Outerchr22:25961498..25970815hg19UCSC Ensembl
Innerchr22:24292054..24299312hg18UCSC Ensembl
Outerchr22:24291498..24300815hg18UCSC Ensembl
Innerchr22:24286608..24293866hg17UCSC 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 StatusS
Merged Variantsnsv9893
Supporting Variants
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)nssv27888
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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