A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8348



Internal ID15499574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:55168964..55539363hg38UCSC Ensembl
Outerchr8:56081524..56451922hg19UCSC Ensembl
Outerchr8:56244078..56614476hg18UCSC Ensembl
Outerchr8:56244078..56614476hg17UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38370400
hg19370399
hg18370399
hg17370399
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv19671
SamplesNA18860
Known GenesSBF1P1, XKR4
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)nsv8348
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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