A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14528



Internal ID15830847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:99518826..99532882hg38UCSC Ensembl
Outerchr5:99518205..99533909hg38UCSC Ensembl
Innerchr5:98854530..98868586hg19UCSC Ensembl
Outerchr5:98853909..98869613hg19UCSC Ensembl
Innerchr5:98882429..98896485hg18UCSC Ensembl
Outerchr5:98881808..98897512hg18UCSC Ensembl
Innerchr5:98882429..98896485hg17UCSC Ensembl
Outerchr5:98881808..98897512hg17UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg3815705
hg1915705
hg1815705
hg1715705
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10726
Supporting Variants
SamplesNA12155
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)nssv14528
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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