A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23790



Internal ID15480692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:82798..128338hg38UCSC Ensembl
Outerchr19:79498..128690hg38UCSC Ensembl
Innerchr19:82798..128338hg19UCSC Ensembl
Outerchr19:79498..128690hg19UCSC Ensembl
Innerchr19:33798..79338hg18UCSC Ensembl
Outerchr19:30498..79690hg18UCSC Ensembl
Innerchr19:33798..79338hg17UCSC Ensembl
Outerchr19:30498..79690hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3849193
hg1949193
hg1849193
hg1749193
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9651
Supporting Variants
SamplesNA07029
Known GenesOR4F17
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)nssv23790
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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