A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24776



Internal ID15843928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133661691..133761294hg38UCSC Ensembl
Outerchr10:133661258..133765923hg38UCSC Ensembl
Innerchr10:135475195..135498619hg19UCSC Ensembl
Outerchr10:135474762..135503248hg19UCSC Ensembl
Innerchr10:135325185..135348609hg18UCSC Ensembl
Outerchr10:135324752..135353238hg18UCSC Ensembl
Innerchr10:135364076..135387500hg17UCSC Ensembl
Outerchr10:135363643..135392129hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38104666
hg1928487
hg1828487
hg1728487
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8752
Supporting Variants
SamplesNA19221
Known GenesDUX2, DUX4, DUX4L, DUX4L2, DUX4L3, DUX4L5, DUX4L6, DUX4L7, LOC100653046
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)nssv24776
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