A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8332



Internal ID15846244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:39560853..39563899hg38UCSC Ensembl
Outerchr8:39418372..39421418hg19UCSC Ensembl
Outerchr8:39537529..39540575hg18UCSC Ensembl
Outerchr8:39537529..39540575hg17UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg383047
hg193047
hg183047
hg173047
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv21210
SamplesNA19221
Known GenesLOC100130964
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)nsv8332
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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