A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22673



Internal ID15492872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133741457..133761294hg38UCSC Ensembl
Outerchr10:133664271..133765923hg38UCSC Ensembl
Innerchr10:135478782..135498619hg19UCSC Ensembl
Outerchr10:135477775..135503248hg19UCSC Ensembl
Innerchr10:135328772..135348609hg18UCSC Ensembl
Outerchr10:135327765..135353238hg18UCSC Ensembl
Innerchr10:135367663..135387500hg17UCSC Ensembl
Outerchr10:135366656..135392129hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38101653
hg1925474
hg1825474
hg1725474
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8752
Supporting Variants
SamplesNA18972
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)nssv22673
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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