A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14139



Internal ID15484576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70202044..70237651hg38UCSC Ensembl
Outerchr5:70201688..70238012hg38UCSC Ensembl
Innerchr5:69497871..69533478hg19UCSC Ensembl
Outerchr5:69497515..69533839hg19UCSC Ensembl
Innerchr5:69533627..69569234hg18UCSC Ensembl
Outerchr5:69533271..69569595hg18UCSC Ensembl
Innerchr5:69533627..69569234hg17UCSC Ensembl
Outerchr5:69533271..69569595hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3836325
hg1936325
hg1836325
hg1736325
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA12740
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)nssv14139
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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