A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8395



Internal ID15846307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:144133915..144163747hg38UCSC Ensembl
Outerchr8:145188818..145218650hg19UCSC Ensembl
Outerchr8:145260806..145290638hg18UCSC Ensembl
Outerchr8:145260806..145290638hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3829833
hg1929833
hg1829833
hg1729833
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv21660, nssv18548, nssv19362, nssv20594
SamplesNA18502, NA12155, NA19221, NA18517
Known GenesFAM203A, MROH1
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)nsv8395
Frequency
Sample Size31
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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