A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11858



Internal ID15484217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:227796165..228039918hg38UCSC Ensembl
Outerchr2:227715193..228041264hg38UCSC Ensembl
Innerchr2:228660881..228904634hg19UCSC Ensembl
Outerchr2:228579909..228905980hg19UCSC Ensembl
Innerchr2:228369125..228612878hg18UCSC Ensembl
Outerchr2:228288153..228614224hg18UCSC Ensembl
Innerchr2:228486386..228730139hg17UCSC Ensembl
Outerchr2:228405414..228731485hg17UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38326072
hg19326072
hg18326072
hg17326072
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10221
Supporting Variants
SamplesNA12155
Known GenesCCL20, DAW1, SLC19A3, SPHKAP
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)nssv11858
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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