A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9021



Internal ID15846933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:130278906..130282060hg38UCSC Ensembl
Outerchr12:130763451..130766605hg19UCSC Ensembl
Outerchr12:129329404..129332558hg18UCSC Ensembl
Outerchr12:129288331..129291485hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg383155
hg193155
hg183155
hg173155
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv23339
SamplesNA19240
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)nsv9021
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