A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22889



Internal ID15483048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18455768..18463720hg38UCSC Ensembl
Outerchr17:18454255..18463761hg38UCSC Ensembl
Innerchr17:18359082..18367034hg19UCSC Ensembl
Outerchr17:18357569..18367075hg19UCSC Ensembl
Innerchr17:18299807..18307759hg18UCSC Ensembl
Outerchr17:18298294..18307800hg18UCSC Ensembl
Innerchr17:18299807..18307759hg17UCSC Ensembl
Outerchr17:18298294..18307800hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg389507
hg199507
hg189507
hg179507
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9504
Supporting Variants
SamplesNA10863
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)nssv22889
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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