A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8338



Internal ID15846250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:48004384..48009797hg38UCSC Ensembl
Outerchr8:48916944..48922357hg19UCSC Ensembl
Outerchr8:49079497..49084910hg18UCSC Ensembl
Outerchr8:49079497..49084910hg17UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg385414
hg195414
hg185414
hg175414
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16982, nssv18308, nssv20324, nssv17433, nssv18691, nssv15521, nssv17586, nssv19633, nssv17598, nssv18009, nssv20063, nssv16584, nssv19641
SamplesNA07029, NA18504, NA12155, NA18860, NA07048, NA18975, NA10863, NA12872, NA18517, NA18564, NA19240, NA12740, NA18972
Known GenesUBE2V2
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)nsv8338
Frequency
Sample Size31
Observed Gain10
Observed Loss3
Observed Complex0
Frequencyn/a


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