A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13125



Internal ID15488360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69534047..69541624hg38UCSC Ensembl
Outerchr5:69533187..69542631hg38UCSC Ensembl
Innerchr5:68829874..68837451hg19UCSC Ensembl
Outerchr5:68829014..68838458hg19UCSC Ensembl
Innerchr5:68865630..68873207hg18UCSC Ensembl
Outerchr5:68864770..68874214hg18UCSC Ensembl
Innerchr5:68865630..68873207hg17UCSC Ensembl
Outerchr5:68864770..68874214hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg389445
hg199445
hg189445
hg179445
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA18537
Known GenesLOC647859, OCLN, SMA4
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)nssv13125
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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