A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14494



Internal ID15481644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29981352..29984362hg38UCSC Ensembl
Outerchr6:29980823..29985054hg38UCSC Ensembl
Innerchr6:29949129..29952139hg19UCSC Ensembl
Outerchr6:29948600..29952831hg19UCSC Ensembl
Innerchr6:30057108..30060118hg18UCSC Ensembl
Outerchr6:30056579..30060810hg18UCSC Ensembl
Innerchr6:30057108..30060118hg17UCSC Ensembl
Outerchr6:30056579..30060810hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg384232
hg194232
hg184232
hg174232
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10810
Supporting Variants
SamplesNA10839
Known Genes
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)nssv14494
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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