A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26616



Internal ID15844335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:14447139..14458300hg38UCSC Ensembl
Outerchr18:14446194..14458384hg38UCSC Ensembl
Innerchr18:14447138..14458299hg19UCSC Ensembl
Outerchr18:14446193..14458383hg19UCSC Ensembl
Innerchr18:14437138..14448299hg18UCSC Ensembl
Outerchr18:14436193..14448383hg18UCSC Ensembl
Innerchr18:14437138..14448299hg17UCSC Ensembl
Outerchr18:14436193..14448383hg17UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3812191
hg1912191
hg1812191
hg1712191
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9615
Supporting Variants
SamplesNA19240
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)nssv26616
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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