A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25416



Internal ID15482913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:42521430..42522249hg38UCSC Ensembl
Outerchr22:42519947..42523228hg38UCSC Ensembl
Innerchr22:42917436..42918255hg19UCSC Ensembl
Outerchr22:42915953..42919234hg19UCSC Ensembl
Innerchr22:41247380..41248199hg18UCSC Ensembl
Outerchr22:41245897..41249178hg18UCSC Ensembl
Innerchr22:41241934..41242753hg17UCSC Ensembl
Outerchr22:41240451..41243732hg17UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg383282
hg193282
hg183282
hg173282
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9912
Supporting Variants
SamplesNA10863
Known Genes
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)nssv25416
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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