A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14684



Internal ID15834399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:17600542..17630666hg38UCSC Ensembl
Outerchr5:17599243..17631177hg38UCSC Ensembl
Innerchr5:17600651..17630775hg19UCSC Ensembl
Outerchr5:17599352..17631286hg19UCSC Ensembl
Innerchr5:17643754..17663473hg18UCSC Ensembl
Outerchr5:17642455..17663984hg18UCSC Ensembl
Innerchr5:17643754..17663473hg17UCSC Ensembl
Outerchr5:17642455..17663984hg17UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg3831935
hg1931935
hg1821530
hg1721530
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10674
Supporting Variants
SamplesNA18517
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)nssv14684
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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