A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9631



Internal ID15847543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:59984698..60004401hg38UCSC Ensembl
Outerchr18:57651930..57671633hg19UCSC Ensembl
Outerchr18:55802910..55822613hg18UCSC Ensembl
Outerchr18:55802910..55822613hg17UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg3819704
hg1919704
hg1819704
hg1719704
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv25489
SamplesNA19173
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)nsv9631
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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