A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28367



Internal ID15843625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:79484433..79525046hg38UCSC Ensembl
Outerchr17:79484176..79525450hg38UCSC Ensembl
Innerchr17:77480515..77521128hg19UCSC Ensembl
Outerchr17:77480258..77521532hg19UCSC Ensembl
Innerchr17:74992110..75032723hg18UCSC Ensembl
Outerchr17:74991853..75033127hg18UCSC Ensembl
Innerchr17:74992110..75032723hg17UCSC Ensembl
Outerchr17:74991853..75033127hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3841275
hg1941275
hg1841275
hg1741275
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9590
Supporting Variants
SamplesNA19221
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)nssv28367
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