A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12400



Internal ID15484919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69785233..69787004hg38UCSC Ensembl
Outerchr5:69784774..69787075hg38UCSC Ensembl
Innerchr5:69081060..69082831hg19UCSC Ensembl
Outerchr5:69080601..69082902hg19UCSC Ensembl
Innerchr5:69116816..69118587hg18UCSC Ensembl
Outerchr5:69116357..69118658hg18UCSC Ensembl
Innerchr5:69116816..69118587hg17UCSC Ensembl
Outerchr5:69116357..69118658hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg382302
hg192302
hg182302
hg172302
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA12802
Known GenesSMA4
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)nssv12400
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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