A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27804



Internal ID15844317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:22189857..22199205hg38UCSC Ensembl
Outerchr16:22189083..22200028hg38UCSC Ensembl
Innerchr16:22201178..22210526hg19UCSC Ensembl
Outerchr16:22200404..22211349hg19UCSC Ensembl
Innerchr16:22108679..22118027hg18UCSC Ensembl
Outerchr16:22107905..22118850hg18UCSC Ensembl
Innerchr16:22108679..22118027hg17UCSC Ensembl
Outerchr16:22107905..22118850hg17UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg3810946
hg1910946
hg1810946
hg1710946
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9403
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)nssv27804
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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