A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9389



Internal ID15847301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:20484321..20486369hg38UCSC Ensembl
Outerchr16:20495643..20497691hg19UCSC Ensembl
Outerchr16:20403144..20405192hg18UCSC Ensembl
Outerchr16:20403144..20405192hg17UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg382049
hg192049
hg182049
hg172049
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv26019
SamplesNA18517
Known GenesACSM2A
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)nsv9389
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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