A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23608



Internal ID15489810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18455768..18466898hg38UCSC Ensembl
Outerchr17:18454255..18467442hg38UCSC Ensembl
Innerchr17:18359082..18370212hg19UCSC Ensembl
Outerchr17:18357569..18370756hg19UCSC Ensembl
Innerchr17:18299807..18310937hg18UCSC Ensembl
Outerchr17:18298294..18311481hg18UCSC Ensembl
Innerchr17:18299807..18310937hg17UCSC Ensembl
Outerchr17:18298294..18311481hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3813188
hg1913188
hg1813188
hg1713188
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9504
Supporting Variants
SamplesNA18564
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)nssv23608
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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