A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9883



Internal ID15847795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:24273518..24279904hg38UCSC Ensembl
Outerchr22:24669486..24675872hg19UCSC Ensembl
Outerchr22:22999486..23005872hg18UCSC Ensembl
Outerchr22:22994040..23000426hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg386387
hg196387
hg186387
hg176387
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv26522, nssv25539, nssv27803, nssv25341, nssv28126, nssv27970
SamplesNA18860, NA07048, NA10863, NA18537, NA19132, NA18517
Known GenesSPECC1L, SPECC1L-ADORA2A
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)nsv9883
Frequency
Sample Size31
Observed Gain5
Observed Loss1
Observed Complex0
Frequencyn/a


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