A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21041



Internal ID15485754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:33128753..33128844hg38UCSC Ensembl
Outerchr16:33128295..33129197hg38UCSC Ensembl
Innerchr16:33140074..33140165hg19UCSC Ensembl
Outerchr16:33139616..33140518hg19UCSC Ensembl
Innerchr16:33047575..33047666hg18UCSC Ensembl
Outerchr16:33047117..33048019hg18UCSC Ensembl
Innerchr16:33047575..33047666hg17UCSC Ensembl
Outerchr16:33047117..33048019hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38903
hg19903
hg18903
hg17903
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9439
Supporting Variants
SamplesNA12872
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)nssv21041
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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