A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24394



Internal ID15836750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:14557187..14585055hg38UCSC Ensembl
Outerchr18:14556542..14586878hg38UCSC Ensembl
Innerchr18:14557186..14585054hg19UCSC Ensembl
Outerchr18:14556541..14586877hg19UCSC Ensembl
Innerchr18:14547186..14575054hg18UCSC Ensembl
Outerchr18:14546541..14576877hg18UCSC Ensembl
Innerchr18:14547186..14575054hg17UCSC Ensembl
Outerchr18:14546541..14576877hg17UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3830337
hg1930337
hg1830337
hg1730337
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9615
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)nssv24394
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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