A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20033



Internal ID15839470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:47902338..47904160hg38UCSC Ensembl
Outerchr8:47901666..47904984hg38UCSC Ensembl
Innerchr8:48814898..48816720hg19UCSC Ensembl
Outerchr8:48814226..48817544hg19UCSC Ensembl
Innerchr8:48977451..48979273hg18UCSC Ensembl
Outerchr8:48976779..48980097hg18UCSC Ensembl
Innerchr8:48977451..48979273hg17UCSC Ensembl
Outerchr8:48976779..48980097hg17UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg383319
hg193319
hg183319
hg173319
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8337
Supporting Variants
SamplesNA18972
Known GenesPRKDC
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)nssv20033
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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