A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9920



Internal ID15501146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:45195407..45197808hg38UCSC Ensembl
Outerchr22:45591288..45593689hg19UCSC Ensembl
Outerchr22:43969952..43972353hg18UCSC Ensembl
Outerchr22:43911825..43914226hg17UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg382402
hg192402
hg182402
hg172402
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv28067
SamplesNA18502
Known GenesKIAA0930
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)nsv9920
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