A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27110



Internal ID15486158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46486987..46503258hg38UCSC Ensembl
Outerchr17:46484959..46503768hg38UCSC Ensembl
Innerchr17:44564353..44580624hg19UCSC Ensembl
Outerchr17:44562325..44581134hg19UCSC Ensembl
Innerchr17:41919669..41935940hg18UCSC Ensembl
Outerchr17:41917641..41936450hg18UCSC Ensembl
Innerchr17:41919669..41935940hg17UCSC Ensembl
Outerchr17:41917641..41936450hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3818810
hg1918810
hg1818810
hg1718810
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9564
Supporting Variants
SamplesNA18502
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)nssv27110
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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