A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10221



Internal ID15498498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:227715193..228041264hg38UCSC Ensembl
Outerchr2:228579909..228905980hg19UCSC Ensembl
Outerchr2:228288153..228614224hg18UCSC 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 StatusM
Merged Variants
Supporting Variantsnssv11721, nssv12330, nssv11579, nssv28911, nssv28249, nssv11803, nssv11858
SamplesNA18504, NA12155, NA18860, NA18975, NA18572, NA19221, NA19173
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)nsv10221
Frequency
Sample Size31
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer