A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9415



Internal ID15500641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:28468881..28498959hg38UCSC Ensembl
Outerchr16:28480202..28510280hg19UCSC Ensembl
Outerchr16:28387703..28417781hg18UCSC Ensembl
Outerchr16:28387703..28417781hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3830079
hg1930079
hg1830079
hg1730079
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv27876
SamplesNA19221
Known GenesAPOBR, CLN3
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)nsv9415
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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