A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9533



Internal ID15500759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:27750070..27778680hg38UCSC Ensembl
Outerchr17:26077096..26105706hg19UCSC Ensembl
Outerchr17:23101223..23129833hg18UCSC Ensembl
Outerchr17:23101223..23129833hg17UCSC Ensembl
Cytoband17q11.1
Allele length
AssemblyAllele length
hg3828611
hg1928611
hg1828611
hg1728611
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv25857, nssv28225, nssv25611
SamplesNA12155, NA19221, NA19240
Known GenesNOS2
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)nsv9533
Frequency
Sample Size31
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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