A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28499



Internal ID15497597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:39971087..39971798hg38UCSC Ensembl
Outerchr19:39970546..39972141hg38UCSC Ensembl
Innerchr19:40476994..40477705hg19UCSC Ensembl
Outerchr19:40476453..40478048hg19UCSC Ensembl
Innerchr19:45168834..45169545hg18UCSC Ensembl
Outerchr19:45168293..45169888hg18UCSC Ensembl
Innerchr19:45168834..45169545hg17UCSC Ensembl
Outerchr19:45168293..45169888hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg381596
hg191596
hg181596
hg171596
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9726
Supporting Variants
SamplesNA19221
Known GenesPSMC4
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)nssv28499
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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