A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14771



Internal ID15485447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:21829..80670hg38UCSC Ensembl
Outerchr1:21411..82189hg38UCSC Ensembl
Innerchr1:21829..80670hg19UCSC Ensembl
Outerchr1:21411..82189hg19UCSC Ensembl
Innerchr1:11692..70533hg18UCSC Ensembl
Outerchr1:11274..72052hg18UCSC Ensembl
Innerchr1:11692..70533hg17UCSC Ensembl
Outerchr1:11274..72052hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3860779
hg1960779
hg1860779
hg1760779
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7879
Supporting Variants
SamplesNA12872
Known GenesFAM138A, FAM138F, OR4F5, WASH7P
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)nssv14771
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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