A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25839



Internal ID15830129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:15605519..15882972hg38UCSC Ensembl
Outerchr22:15605040..15883341hg38UCSC Ensembl
Innerchr22:16094991..16372444hg19UCSC Ensembl
Outerchr22:16094622..16372923hg19UCSC Ensembl
Innerchr22:14474991..14752444hg18UCSC Ensembl
Outerchr22:14474622..14752923hg18UCSC Ensembl
Innerchr22:14474991..14746998hg17UCSC Ensembl
Outerchr22:14474622..14747477hg17UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38278302
hg19278302
hg18278302
hg17272856
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9866
Supporting Variants
SamplesNA11830
Known GenesBMS1P17, BMS1P18, POTEH
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)nssv25839
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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