A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9590



Internal ID15847502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:79484176..79525450hg38UCSC Ensembl
Outerchr17:77480258..77521532hg19UCSC Ensembl
Outerchr17:74991853..75033127hg18UCSC Ensembl
Outerchr17:74991853..75033127hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3841275
hg1941275
hg1841275
hg1741275
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv24435, nssv28367, nssv25360, nssv27551, nssv26503
SamplesNA18860, NA10839, NA19221, NA19240, NA19173
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)nsv9590
Frequency
Sample Size31
Observed Gain1
Observed Loss4
Observed Complex0
Frequencyn/a


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