A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25418



Internal ID15483675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:19182498..19185411hg38UCSC Ensembl
Outerchr17:19181806..19185421hg38UCSC Ensembl
Innerchr17:19085811..19088724hg19UCSC Ensembl
Outerchr17:19085119..19088734hg19UCSC Ensembl
Innerchr17:19026404..19029317hg18UCSC Ensembl
Outerchr17:19025712..19029327hg18UCSC Ensembl
Innerchr17:19026404..19029317hg17UCSC Ensembl
Outerchr17:19025712..19029327hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg383616
hg193616
hg183616
hg173616
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9504
Supporting Variants
SamplesNA12155
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)nssv25418
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