A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8392



Internal ID15846304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:140991627..141031581hg38UCSC Ensembl
Outerchr8:142001726..142041680hg19UCSC Ensembl
Outerchr8:142070908..142110862hg18UCSC Ensembl
Outerchr8:142070908..142110862hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3839955
hg1939955
hg1839955
hg1739955
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv19963, nssv20534
SamplesNA18504, NA18517
Known GenesPTK2
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)nsv8392
Frequency
Sample Size31
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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