A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23249



Internal ID15494164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:32698195..32774444hg38UCSC Ensembl
Outerchr16:32696528..32774738hg38UCSC Ensembl
Innerchr16:32709516..32785765hg19UCSC Ensembl
Outerchr16:32707849..32786059hg19UCSC Ensembl
Innerchr16:32617017..32693266hg18UCSC Ensembl
Outerchr16:32615350..32693560hg18UCSC Ensembl
Innerchr16:32617017..32693266hg17UCSC Ensembl
Outerchr16:32615350..32693560hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3878211
hg1978211
hg1878211
hg1778211
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9439
Supporting Variants
SamplesNA18980
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)nssv23249
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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