A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12007



Internal ID15829841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:69260092..69369282hg38UCSC Ensembl
Outerchr4:69259631..69369886hg38UCSC Ensembl
Innerchr4:70125810..70235000hg19UCSC Ensembl
Outerchr4:70125349..70235604hg19UCSC Ensembl
Innerchr4:70160399..70269589hg18UCSC Ensembl
Outerchr4:70159938..70270193hg18UCSC Ensembl
Innerchr4:70306570..70415760hg17UCSC Ensembl
Outerchr4:70306109..70416364hg17UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38110256
hg19110256
hg18110256
hg17110256
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10524
Supporting Variants
SamplesNA11830
Known GenesUGT2B28
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)nssv12007
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