A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14229



Internal ID15484862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70586690..70716816hg38UCSC Ensembl
Outerchr5:70586586..70717109hg38UCSC Ensembl
Innerchr5:69882517..70012643hg19UCSC Ensembl
Outerchr5:69882413..70012936hg19UCSC Ensembl
Innerchr5:69918273..70048399hg18UCSC Ensembl
Outerchr5:69918169..70048692hg18UCSC Ensembl
Innerchr5:69918273..70048399hg17UCSC Ensembl
Outerchr5:69918169..70048692hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38130524
hg19130524
hg18130524
hg17130524
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA12740
Known Genes
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)nssv14229
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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