A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13138



Internal ID15842781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:629475..633216hg38UCSC Ensembl
Outerchr5:629368..634047hg38UCSC Ensembl
Innerchr5:629590..633331hg19UCSC Ensembl
Outerchr5:629483..634162hg19UCSC Ensembl
Innerchr5:682590..686331hg18UCSC Ensembl
Outerchr5:682483..687162hg18UCSC Ensembl
Innerchr5:682590..686331hg17UCSC Ensembl
Outerchr5:682483..687162hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg384680
hg194680
hg184680
hg174680
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10652
Supporting Variants
SamplesNA19144
Known GenesCEP72
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)nssv13138
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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