A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8743



Internal ID15499969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:131938618..131939839hg38UCSC Ensembl
Outerchr10:133752122..133753343hg19UCSC Ensembl
Outerchr10:133602112..133603333hg18UCSC Ensembl
Outerchr10:133602112..133603333hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg381222
hg191222
hg181222
hg171222
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv19594, nssv20117, nssv23105, nssv19698, nssv17621
SamplesNA10839, NA18860, NA18563, NA12872, NA18564
Known GenesPPP2R2D
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)nsv8743
Frequency
Sample Size31
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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