A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9387



Internal ID15500613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:19001807..19005987hg38UCSC Ensembl
Outerchr16:19013129..19017309hg19UCSC Ensembl
Outerchr16:18920630..18924810hg18UCSC Ensembl
Outerchr16:18920630..18924810hg17UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg384181
hg194181
hg184181
hg174181
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv23166
SamplesNA19007
Known GenesTMC7
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)nsv9387
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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