A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27558



Internal ID15487359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:43275610..43282697hg38UCSC Ensembl
Outerchr19:43273987..43283019hg38UCSC Ensembl
Innerchr19:43779762..43786849hg19UCSC Ensembl
Outerchr19:43778139..43787171hg19UCSC Ensembl
Innerchr19:48471602..48478689hg18UCSC Ensembl
Outerchr19:48469979..48479011hg18UCSC Ensembl
Innerchr19:48471602..48478689hg17UCSC Ensembl
Outerchr19:48469979..48479011hg17UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg389033
hg199033
hg189033
hg179033
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9730
Supporting Variants
SamplesNA18517
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)nssv27558
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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