A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14967



Internal ID15494897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70240400..70242150hg38UCSC Ensembl
Outerchr5:70240132..70242800hg38UCSC Ensembl
Innerchr5:69536227..69537977hg19UCSC Ensembl
Outerchr5:69535959..69538627hg19UCSC Ensembl
Innerchr5:69571983..69573733hg18UCSC Ensembl
Outerchr5:69571715..69574383hg18UCSC Ensembl
Innerchr5:69571983..69573733hg17UCSC Ensembl
Outerchr5:69571715..69574383hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg382669
hg192669
hg182669
hg172669
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA19132
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)nssv14967
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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