A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26166



Internal ID15844463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41649446..41650605hg38UCSC Ensembl
Outerchr17:41648936..41651854hg38UCSC Ensembl
Innerchr17:39805698..39806857hg19UCSC Ensembl
Outerchr17:39805188..39808106hg19UCSC Ensembl
Innerchr17:37059224..37060383hg18UCSC Ensembl
Outerchr17:37058714..37061632hg18UCSC Ensembl
Innerchr17:37059224..37060383hg17UCSC Ensembl
Outerchr17:37058714..37061632hg17UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg382919
hg192919
hg182919
hg172919
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9561
Supporting Variants
SamplesNA19240
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)nssv26166
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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