A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28497



Internal ID15497578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:38808949..38816563hg38UCSC Ensembl
Outerchr19:38807433..38816933hg38UCSC Ensembl
Innerchr19:39299589..39307203hg19UCSC Ensembl
Outerchr19:39298073..39307573hg19UCSC Ensembl
Innerchr19:43991429..43999043hg18UCSC Ensembl
Outerchr19:43989913..43999413hg18UCSC Ensembl
Innerchr19:43991429..43999043hg17UCSC Ensembl
Outerchr19:43989913..43999413hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg389501
hg199501
hg189501
hg179501
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9722
Supporting Variants
SamplesNA19221
Known GenesECH1, LGALS4
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)nssv28497
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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