A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12071



Internal ID15485481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71441..118359hg38UCSC Ensembl
Outerchr5:59149..119560hg38UCSC Ensembl
Innerchr5:71556..118474hg19UCSC Ensembl
Outerchr5:59264..119675hg19UCSC Ensembl
Innerchr5:124556..171474hg18UCSC Ensembl
Outerchr5:112264..172675hg18UCSC Ensembl
Innerchr5:124556..171474hg17UCSC Ensembl
Outerchr5:112264..172675hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3860412
hg1960412
hg1860412
hg1760412
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10643
Supporting Variants
SamplesNA12872
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)nssv12071
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