A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14780



Internal ID15490755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:41187..86778hg38UCSC Ensembl
Outerchr1:37889..87466hg38UCSC Ensembl
Innerchr1:41187..86778hg19UCSC Ensembl
Outerchr1:37889..87466hg19UCSC Ensembl
Innerchr1:31050..76641hg18UCSC Ensembl
Outerchr1:27752..77329hg18UCSC Ensembl
Innerchr1:31050..76641hg17UCSC Ensembl
Outerchr1:27752..77329hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3849578
hg1949578
hg1849578
hg1749578
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7879
Supporting Variants
SamplesNA18853
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)nssv14780
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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