A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27430



Internal ID15487142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:44706952..44707574hg38UCSC Ensembl
Outerchr22:44706506..44707994hg38UCSC Ensembl
Innerchr22:45102832..45103454hg19UCSC Ensembl
Outerchr22:45102386..45103874hg19UCSC Ensembl
Innerchr22:43481496..43482118hg18UCSC Ensembl
Outerchr22:43481050..43482538hg18UCSC Ensembl
Innerchr22:43423369..43423991hg17UCSC Ensembl
Outerchr22:43422923..43424411hg17UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg381489
hg191489
hg181489
hg171489
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9917
Supporting Variants
SamplesNA18504
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)nssv27430
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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