A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25360



Internal ID15843335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:79511946..79512846hg38UCSC Ensembl
Outerchr17:79511438..79513311hg38UCSC Ensembl
Innerchr17:77508028..77508928hg19UCSC Ensembl
Outerchr17:77507520..77509393hg19UCSC Ensembl
Innerchr17:75019623..75020523hg18UCSC Ensembl
Outerchr17:75019115..75020988hg18UCSC Ensembl
Innerchr17:75019623..75020523hg17UCSC Ensembl
Outerchr17:75019115..75020988hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg381874
hg191874
hg181874
hg171874
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9590
Supporting Variants
SamplesNA19173
Known GenesRBFOX3
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)nssv25360
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