A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8322



Internal ID15499548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:22688703..22696273hg38UCSC Ensembl
Outerchr8:22546216..22553786hg19UCSC Ensembl
Outerchr8:22602161..22609731hg18UCSC Ensembl
Outerchr8:22602161..22609731hg17UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg387571
hg197571
hg187571
hg177571
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18248, nssv21120
SamplesNA12155, NA19221
Known GenesEGR3
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)nsv8322
Frequency
Sample Size31
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer