A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10223



Internal ID15845186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:231819724..231852629hg38UCSC Ensembl
Outerchr2:232684434..232717339hg19UCSC Ensembl
Outerchr2:232392678..232425583hg18UCSC Ensembl
Outerchr2:232509939..232542844hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3832906
hg1932906
hg1832906
hg1732906
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv28971, nssv11757, nssv11833, nssv29115, nssv28439, nssv28986, nssv28696, nssv27727, nssv28285, nssv29098, nssv28890, nssv28006, nssv28594, nssv28501, nssv28891, nssv28675
SamplesNA11830, NA18980, NA07029, NA18504, NA12802, NA07048, NA10839, NA18975, NA19007, NA10847, NA12872, NA18853, NA19132, NA18564, NA19240, NA12740
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)nsv10223
Frequency
Sample Size31
Observed Gain1
Observed Loss15
Observed Complex0
Frequencyn/a


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