A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8517



Internal ID15846429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:65217290..65254489hg38UCSC Ensembl
Outerchr9:70361319..70398574hg19UCSC Ensembl
Outerchr9:69601139..69638394hg18UCSC Ensembl
Outerchr9:67869806..67907061hg17UCSC Ensembl
Cytoband9q12
Allele length
AssemblyAllele length
hg3837200
hg1937256
hg1837256
hg1737256
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv22913, nssv16720
SamplesNA12802, NA19221
Known Genes
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)nsv8517
Frequency
Sample Size31
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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