A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23971



Internal ID15493373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:82798..114522hg38UCSC Ensembl
Outerchr19:79498..122262hg38UCSC Ensembl
Innerchr19:82798..114522hg19UCSC Ensembl
Outerchr19:79498..122262hg19UCSC Ensembl
Innerchr19:33798..65522hg18UCSC Ensembl
Outerchr19:30498..73262hg18UCSC Ensembl
Innerchr19:33798..65522hg17UCSC Ensembl
Outerchr19:30498..73262hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3842765
hg1942765
hg1842765
hg1742765
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9651
Supporting Variants
SamplesNA18975
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)nssv23971
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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