A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14786



Internal ID15494674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:55847..68892hg38UCSC Ensembl
Outerchr1:54397..69577hg38UCSC Ensembl
Innerchr1:55847..68892hg19UCSC Ensembl
Outerchr1:54397..69577hg19UCSC Ensembl
Innerchr1:45710..58755hg18UCSC Ensembl
Outerchr1:44260..59440hg18UCSC Ensembl
Innerchr1:45710..58755hg17UCSC Ensembl
Outerchr1:44260..59440hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3815181
hg1915181
hg1815181
hg1715181
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7879
Supporting Variants
SamplesNA19007
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)nssv14786
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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