A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28129



Internal ID15497262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:87882332..87939138hg38UCSC Ensembl
Outerchr16:87881137..87941142hg38UCSC Ensembl
Innerchr16:87915938..87972744hg19UCSC Ensembl
Outerchr16:87914743..87974748hg19UCSC Ensembl
Innerchr16:86473439..86530245hg18UCSC Ensembl
Outerchr16:86472244..86532249hg18UCSC Ensembl
Innerchr16:86473439..86530245hg17UCSC Ensembl
Outerchr16:86472244..86532249hg17UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg3860006
hg1960006
hg1860006
hg1760006
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9471
Supporting Variants
SamplesNA19221
Known GenesCA5A
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)nssv28129
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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