A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26434



Internal ID15484706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:44702490..44702961hg38UCSC Ensembl
Outerchr22:44701634..44703556hg38UCSC Ensembl
Innerchr22:45098370..45098841hg19UCSC Ensembl
Outerchr22:45097514..45099436hg19UCSC Ensembl
Innerchr22:43477034..43477505hg18UCSC Ensembl
Outerchr22:43476178..43478100hg18UCSC Ensembl
Innerchr22:43418907..43419378hg17UCSC Ensembl
Outerchr22:43418051..43419973hg17UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg381923
hg191923
hg181923
hg171923
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9916
Supporting Variants
SamplesNA12740
Known GenesPRR5, PRR5-ARHGAP8
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)nssv26434
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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