A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8379



Internal ID15846291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:118200298..118204306hg38UCSC Ensembl
Outerchr8:119212537..119216545hg19UCSC Ensembl
Outerchr8:119281718..119285726hg18UCSC Ensembl
Outerchr8:119281718..119285726hg17UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg384009
hg194009
hg184009
hg174009
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv19272
SamplesNA18502
Known GenesSAMD12
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)nsv8379
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