A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8566



Internal ID15846478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:120892450..120896861hg38UCSC Ensembl
Outerchr9:123654728..123659139hg19UCSC Ensembl
Outerchr9:122694549..122698960hg18UCSC Ensembl
Outerchr9:120734282..120738693hg17UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg384412
hg194412
hg184412
hg174412
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv21653
SamplesNA18972
Known GenesPHF19
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)nsv8566
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