A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18113



Internal ID15492721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:45825..100645hg38UCSC Ensembl
Outerchr1:42673..104304hg38UCSC Ensembl
Innerchr1:45825..100645hg19UCSC Ensembl
Outerchr1:42673..104304hg19UCSC Ensembl
Innerchr1:35688..90508hg18UCSC Ensembl
Outerchr1:32536..94167hg18UCSC Ensembl
Innerchr1:35688..90508hg17UCSC Ensembl
Outerchr1:32536..94167hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3861632
hg1961632
hg1861632
hg1761632
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7879
Supporting Variants
SamplesNA18972
Known GenesOR4F5
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)nssv18113
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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