A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9901



Internal ID15501127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:36575855..36581204hg38UCSC Ensembl
Outerchr22:36971902..36977251hg19UCSC Ensembl
Outerchr22:35301848..35307197hg18UCSC Ensembl
Outerchr22:35296402..35301751hg17UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg385350
hg195350
hg185350
hg175350
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv27861
SamplesNA19132
Known GenesCACNG2
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)nsv9901
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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