A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9599



Internal ID15847511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:10001..68441hg38UCSC Ensembl
Outerchr18:10001..68441hg19UCSC Ensembl
Outerchr18:1..58441hg18UCSC Ensembl
Outerchr18:1..58441hg17UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg3858441
hg1958441
hg1858441
hg1758441
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv24453
SamplesNA19007
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)nsv9599
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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