A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28721



Internal ID15843802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:15602002..15606209hg38UCSC Ensembl
Outerchr22:15601524..15610488hg38UCSC Ensembl
Innerchr22:16371754..16375961hg19UCSC Ensembl
Outerchr22:16367475..16376439hg19UCSC Ensembl
Innerchr22:14751754..14755961hg18UCSC Ensembl
Outerchr22:14747475..14756439hg18UCSC Ensembl
Innerchr22:14746308..14750515hg17UCSC Ensembl
Outerchr22:14742029..14750993hg17UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg388965
hg198965
hg188965
hg178965
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9866
Supporting Variants
SamplesNA19221
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)nssv28721
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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