A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26323



Internal ID15483537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:42494644..42558209hg38UCSC Ensembl
Outerchr22:42493449..42560290hg38UCSC Ensembl
Innerchr22:42890650..42954215hg19UCSC Ensembl
Outerchr22:42889455..42956296hg19UCSC Ensembl
Innerchr22:41220594..41284159hg18UCSC Ensembl
Outerchr22:41219399..41286240hg18UCSC Ensembl
Innerchr22:41215148..41278713hg17UCSC Ensembl
Outerchr22:41213953..41280794hg17UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3866842
hg1966842
hg1866842
hg1766842
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9912
Supporting Variants
SamplesNA11830
Known GenesRRP7A, SERHL, SERHL2
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)nssv26323
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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