A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16282



Internal ID15492267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:18988235..18989790hg38UCSC Ensembl
Outerchr8:18987118..18990806hg38UCSC Ensembl
Innerchr8:18845745..18847300hg19UCSC Ensembl
Outerchr8:18844628..18848316hg19UCSC Ensembl
Innerchr8:18890025..18891580hg18UCSC Ensembl
Outerchr8:18888908..18892596hg18UCSC Ensembl
Innerchr8:18890025..18891580hg17UCSC Ensembl
Outerchr8:18888908..18892596hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg383689
hg193689
hg183689
hg173689
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8309
Supporting Variants
SamplesNA18942
Known GenesPSD3
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)nssv16282
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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