A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26861



Internal ID15490056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:225471074..225498533hg38UCSC Ensembl
Outerchr1:225468706..225500008hg38UCSC Ensembl
Innerchr1:225658776..225686235hg19UCSC Ensembl
Outerchr1:225656408..225687710hg19UCSC Ensembl
Innerchr1:223725399..223752858hg18UCSC Ensembl
Outerchr1:223723031..223754333hg18UCSC Ensembl
Innerchr1:221965511..221992970hg17UCSC Ensembl
Outerchr1:221963143..221994445hg17UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3831303
hg1931303
hg1831303
hg1731303
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8880
Supporting Variants
SamplesNA18564
Known GenesENAH
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)nssv26861
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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