A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26228



Internal ID15493947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:45248945..45513186hg38UCSC Ensembl
Outerchr22:45247876..45514132hg38UCSC Ensembl
Innerchr22:45644826..45909066hg19UCSC Ensembl
Outerchr22:45643757..45910012hg19UCSC Ensembl
Innerchr22:44023490..44287730hg18UCSC Ensembl
Outerchr22:44022421..44288676hg18UCSC Ensembl
Innerchr22:43965363..44229603hg17UCSC Ensembl
Outerchr22:43964294..44230549hg17UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38266257
hg19266256
hg18266256
hg17266256
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9921
Supporting Variants
SamplesNA18980
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)nssv26228
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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