A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9381



Internal ID15500607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:18589094..18593325hg38UCSC Ensembl
Outerchr16:18600416..18604647hg19UCSC Ensembl
Outerchr16:18507917..18512148hg18UCSC Ensembl
Outerchr16:18507917..18512148hg17UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg384232
hg194232
hg184232
hg174232
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv26449
SamplesNA18502
Known GenesABCC6P1
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)nsv9381
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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