A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18059



Internal ID15843197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:40325385..40332197hg38UCSC Ensembl
Outerchr8:40324640..40332592hg38UCSC Ensembl
Innerchr8:40182904..40189716hg19UCSC Ensembl
Outerchr8:40182159..40190111hg19UCSC Ensembl
Innerchr8:40302061..40308873hg18UCSC Ensembl
Outerchr8:40301316..40309268hg18UCSC Ensembl
Innerchr8:40302061..40308873hg17UCSC Ensembl
Outerchr8:40301316..40309268hg17UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg387953
hg197953
hg187953
hg177953
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8334
Supporting Variants
SamplesNA19173
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)nssv18059
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