A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10652



Internal ID15845615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:629368..634047hg38UCSC Ensembl
Outerchr5:629483..634162hg19UCSC Ensembl
Outerchr5:682483..687162hg18UCSC 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 StatusM
Merged Variants
Supporting Variantsnssv13138, nssv12161, nssv14331
SamplesNA18860, NA12872, NA19144
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)nsv10652
Frequency
Sample Size31
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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