A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26493



Internal ID15487547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:33577736..33579668hg38UCSC Ensembl
Outerchr16:33577203..33580597hg38UCSC Ensembl
Innerchr16:33380203..33382135hg19UCSC Ensembl
Outerchr16:33379670..33383064hg19UCSC Ensembl
Innerchr16:33287704..33289636hg18UCSC Ensembl
Outerchr16:33287171..33290565hg18UCSC Ensembl
Innerchr16:33287704..33289636hg17UCSC Ensembl
Outerchr16:33287171..33290565hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg383395
hg193395
hg183395
hg173395
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9439
Supporting Variants
SamplesNA18517
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)nssv26493
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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