A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8278



Internal ID15846190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:6970267..7023782hg38UCSC Ensembl
Outerchr8:6827789..6881304hg19UCSC Ensembl
Outerchr8:6815199..6868714hg18UCSC Ensembl
Outerchr8:6815199..6868714hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3853516
hg1953516
hg1853516
hg1753516
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv19343, nssv15679, nssv16164, nssv17798, nssv16675, nssv20460, nssv16012, nssv19283, nssv17043, nssv19844, nssv19313, nssv20490, nssv16837, nssv15281, nssv20400, nssv16532
SamplesNA11830, NA18980, NA07029, NA12155, NA18942, NA07048, NA18975, NA12872, NA18572, NA19221, NA18517, NA18972
Known GenesDEFA1, DEFA1B, DEFA3, DEFT1P, DEFT1P2
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)nsv8278
Frequency
Sample Size31
Observed Gain7
Observed Loss5
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer