A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9921



Internal ID15501147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:45247876..45514132hg38UCSC Ensembl
Outerchr22:45643757..45910012hg19UCSC Ensembl
Outerchr22:44022421..44288676hg18UCSC Ensembl
Outerchr22:43964294..44230549hg17UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38266257
hg19266256
hg18266256
hg17266256
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv27447, nssv26797, nssv26228, nssv26673, nssv25783
SamplesNA18980, NA18504, NA18537, NA18853, NA19144
Known GenesFAM118A, FBLN1, RIBC2, SMC1B, UPK3A
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)nsv9921
Frequency
Sample Size31
Observed Gain1
Observed Loss4
Observed Complex0
Frequencyn/a


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