A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21030



Internal ID15496878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:18996399..19000975hg38UCSC Ensembl
Outerchr8:18995414..19001666hg38UCSC Ensembl
Innerchr8:18853909..18858485hg19UCSC Ensembl
Outerchr8:18852924..18859176hg19UCSC Ensembl
Innerchr8:18898189..18902765hg18UCSC Ensembl
Outerchr8:18897204..18903456hg18UCSC Ensembl
Innerchr8:18898189..18902765hg17UCSC Ensembl
Outerchr8:18897204..18903456hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg386253
hg196253
hg186253
hg176253
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8310
Supporting Variants
SamplesNA19221
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)nssv21030
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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