A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22858



Internal ID15481429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:33497512..33506978hg38UCSC Ensembl
Outerchr16:33496983..33507197hg38UCSC Ensembl
Innerchr16:33299979..33309445hg19UCSC Ensembl
Outerchr16:33299450..33309664hg19UCSC Ensembl
Innerchr16:33207480..33216946hg18UCSC Ensembl
Outerchr16:33206951..33217165hg18UCSC Ensembl
Innerchr16:33207480..33216946hg17UCSC Ensembl
Outerchr16:33206951..33217165hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3810215
hg1910215
hg1810215
hg1710215
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9439
Supporting Variants
SamplesNA07048
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)nssv22858
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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