A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14640



Internal ID15843629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:131821012..131822476hg38UCSC Ensembl
Outerchr4:131820583..131822891hg38UCSC Ensembl
Innerchr4:132742167..132743631hg19UCSC Ensembl
Outerchr4:132741738..132744046hg19UCSC Ensembl
Innerchr4:132961617..132963081hg18UCSC Ensembl
Outerchr4:132961188..132963496hg18UCSC Ensembl
Innerchr4:133099772..133101236hg17UCSC Ensembl
Outerchr4:133099343..133101651hg17UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg382309
hg192309
hg182309
hg172309
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10568
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)nssv14640
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