A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21992



Internal ID15480937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:31950983..32068991hg38UCSC Ensembl
Outerchr16:31950314..32080421hg38UCSC Ensembl
Innerchr16:31962304..32080312hg19UCSC Ensembl
Outerchr16:31961635..32091742hg19UCSC Ensembl
Innerchr16:31869805..31987813hg18UCSC Ensembl
Outerchr16:31869136..31999243hg18UCSC Ensembl
Innerchr16:31869805..31987813hg17UCSC Ensembl
Outerchr16:31869136..31999243hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38130108
hg19130108
hg18130108
hg17130108
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9439
Supporting Variants
SamplesNA07029
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)nssv21992
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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