A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25683



Internal ID15487247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:5298083..5298749hg38UCSC Ensembl
Outerchr16:5296147..5303270hg38UCSC Ensembl
Innerchr16:5348084..5348750hg19UCSC Ensembl
Outerchr16:5346148..5353271hg19UCSC Ensembl
Innerchr16:5288085..5288751hg18UCSC Ensembl
Outerchr16:5286149..5293272hg18UCSC Ensembl
Innerchr16:5288085..5288751hg17UCSC Ensembl
Outerchr16:5286149..5293272hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg387124
hg197124
hg187124
hg177124
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9341
Supporting Variants
SamplesNA18517
Known Genes
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)nssv25683
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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