A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13055



Internal ID15482490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70257060..70258027hg38UCSC Ensembl
Outerchr5:70256584..70258446hg38UCSC Ensembl
Innerchr5:69552887..69553854hg19UCSC Ensembl
Outerchr5:69552411..69554273hg19UCSC Ensembl
Innerchr5:69588643..69589610hg18UCSC Ensembl
Outerchr5:69588167..69590029hg18UCSC Ensembl
Innerchr5:69588643..69589610hg17UCSC Ensembl
Outerchr5:69588167..69590029hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381863
hg191863
hg181863
hg171863
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA10847
Known GenesGUSBP9, 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)nssv13055
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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