A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9501



Internal ID15847413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:17719883..17725476hg38UCSC Ensembl
Outerchr17:17623197..17628790hg19UCSC Ensembl
Outerchr17:17563922..17569515hg18UCSC Ensembl
Outerchr17:17563922..17569515hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg385594
hg195594
hg185594
hg175594
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv27173
SamplesNA18860
Known GenesRAI1
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)nsv9501
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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