A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27353



Internal ID15483773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:24528241..24654643hg38UCSC Ensembl
Outerchr22:24465656..24655129hg38UCSC Ensembl
Innerchr22:24924209..25050610hg19UCSC Ensembl
Outerchr22:24861624..25051096hg19UCSC Ensembl
Innerchr22:23254209..23380610hg18UCSC Ensembl
Outerchr22:23191624..23381096hg18UCSC Ensembl
Innerchr22:23248763..23375164hg17UCSC Ensembl
Outerchr22:23186178..23375650hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38189474
hg19189473
hg18189473
hg17189473
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9884
Supporting Variants
SamplesNA12155
Known GenesADORA2A-AS1, BCRP3, FAM211B, GGT1, GUCD1, POM121L10P, SNRPD3, 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)nssv27353
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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