A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22497



Internal ID15494969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:765282..770250hg38UCSC Ensembl
Outerchr11:764327..772031hg38UCSC Ensembl
Innerchr11:765282..770250hg19UCSC Ensembl
Outerchr11:764327..772031hg19UCSC Ensembl
Innerchr11:755282..760250hg18UCSC Ensembl
Outerchr11:754327..762031hg18UCSC Ensembl
Innerchr11:755282..760250hg17UCSC Ensembl
Outerchr11:754327..762031hg17UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg387705
hg197705
hg187705
hg177705
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8758
Supporting Variants
SamplesNA19132
Known GenesPDDC1, TALDO1
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)nssv22497
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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