A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26793



Internal ID15487415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18453726..18467442hg38UCSC Ensembl
Outerchr17:18453368..18469991hg38UCSC Ensembl
Innerchr17:18357040..18370756hg19UCSC Ensembl
Outerchr17:18356682..18373305hg19UCSC Ensembl
Innerchr17:18297765..18311481hg18UCSC Ensembl
Outerchr17:18297407..18314030hg18UCSC Ensembl
Innerchr17:18297765..18311481hg17UCSC Ensembl
Outerchr17:18297407..18314030hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3816624
hg1916624
hg1816624
hg1716624
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9504
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)nssv26793
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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