A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9478



Internal ID15500704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89829349..89835481hg38UCSC Ensembl
Outerchr16:89895757..89901889hg19UCSC Ensembl
Outerchr16:88423258..88429390hg18UCSC Ensembl
Outerchr16:88423258..88429390hg17UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg386133
hg196133
hg186133
hg176133
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv22714, nssv20675
SamplesNA10847, NA10863
Known GenesSPIRE2
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)nsv9478
Frequency
Sample Size31
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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