A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23358



Internal ID15838766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:14490087..14499153hg38UCSC Ensembl
Outerchr18:14489250..14499546hg38UCSC Ensembl
Innerchr18:14490086..14499152hg19UCSC Ensembl
Outerchr18:14489249..14499545hg19UCSC Ensembl
Innerchr18:14480086..14489152hg18UCSC Ensembl
Outerchr18:14479249..14489545hg18UCSC Ensembl
Innerchr18:14480086..14489152hg17UCSC Ensembl
Outerchr18:14479249..14489545hg17UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3810297
hg1910297
hg1810297
hg1710297
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9615
Supporting Variants
SamplesNA18942
Known GenesCXADRP3
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)nssv23358
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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