A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15233



Internal ID15839311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:13213508..13216744hg38UCSC Ensembl
Outerchr5:13212985..13220473hg38UCSC Ensembl
Innerchr5:13213620..13216856hg19UCSC Ensembl
Outerchr5:13213097..13220585hg19UCSC Ensembl
Innerchr5:13266620..13269856hg18UCSC Ensembl
Outerchr5:13266097..13273585hg18UCSC Ensembl
Innerchr5:13266620..13269856hg17UCSC Ensembl
Outerchr5:13266097..13273585hg17UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg387489
hg197489
hg187489
hg177489
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10669
Supporting Variants
SamplesNA18972
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)nssv15233
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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