A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28420



Internal ID15497177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:60354..122262hg38UCSC Ensembl
Outerchr19:60001..128306hg38UCSC Ensembl
Innerchr19:60354..122262hg19UCSC Ensembl
Outerchr19:60001..128306hg19UCSC Ensembl
Innerchr19:11354..73262hg18UCSC Ensembl
Outerchr19:11001..79306hg18UCSC Ensembl
Innerchr19:11354..73262hg17UCSC Ensembl
Outerchr19:6284..79306hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3868306
hg1968306
hg1868306
hg1773023
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9651
Supporting Variants
SamplesNA19221
Known GenesFAM138A, FAM138F, OR4F17, WASH5P
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)nssv28420
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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