A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9339



Internal ID15500565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:4959931..4964274hg38UCSC Ensembl
Outerchr16:5009932..5014275hg19UCSC Ensembl
Outerchr16:4949933..4954276hg18UCSC Ensembl
Outerchr16:4949933..4954276hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg384344
hg194344
hg184344
hg174344
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv22547
SamplesNA18563
Known GenesSEC14L5
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)nsv9339
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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