A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18128



Internal ID15483701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:15011276..15012022hg38UCSC Ensembl
Outerchr8:15010715..15013139hg38UCSC Ensembl
Innerchr8:14868785..14869531hg19UCSC Ensembl
Outerchr8:14868224..14870648hg19UCSC Ensembl
Innerchr8:14913156..14913902hg18UCSC Ensembl
Outerchr8:14912595..14915019hg18UCSC Ensembl
Innerchr8:14913156..14913902hg17UCSC Ensembl
Outerchr8:14912595..14915019hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg382425
hg192425
hg182425
hg172425
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8298
Supporting Variants
SamplesNA12155
Known GenesSGCZ
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)nssv18128
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