A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25568



Internal ID15486834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:32749319..32749822hg38UCSC Ensembl
Outerchr16:32748916..32750435hg38UCSC Ensembl
Innerchr16:32760640..32761143hg19UCSC Ensembl
Outerchr16:32760237..32761756hg19UCSC Ensembl
Innerchr16:32668141..32668644hg18UCSC Ensembl
Outerchr16:32667738..32669257hg18UCSC Ensembl
Innerchr16:32668141..32668644hg17UCSC Ensembl
Outerchr16:32667738..32669257hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381520
hg191520
hg181520
hg171520
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9439
Supporting Variants
SamplesNA18504
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)nssv25568
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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