A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28764



Internal ID15497159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25559789..25565531hg38UCSC Ensembl
Outerchr22:25559018..25566087hg38UCSC Ensembl
Innerchr22:25955756..25961498hg19UCSC Ensembl
Outerchr22:25954985..25962054hg19UCSC Ensembl
Innerchr22:24285756..24291498hg18UCSC Ensembl
Outerchr22:24284985..24292054hg18UCSC Ensembl
Innerchr22:24280310..24286052hg17UCSC Ensembl
Outerchr22:24279539..24286608hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg387070
hg197070
hg187070
hg177070
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9892
Supporting Variants
SamplesNA19221
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)nssv28764
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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