A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9884



Internal ID15501110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:24415625..24662249hg38UCSC Ensembl
Outerchr22:24811593..25058216hg19UCSC Ensembl
Outerchr22:23141593..23388216hg18UCSC Ensembl
Outerchr22:23136147..23382770hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38246625
hg19246624
hg18246624
hg17246624
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv28128, nssv26536, nssv27810, nssv28761, nssv27353, nssv27874
SamplesNA12155, NA18860, NA19221, NA18537, NA19132, NA18972
Known GenesADORA2A, ADORA2A-AS1, BCRP3, FAM211B, GGT1, GUCD1, POM121L10P, SNRPD3, SPECC1L, SPECC1L-ADORA2A, UPB1
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)nsv9884
Frequency
Sample Size31
Observed Gain4
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer