A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13666



Internal ID15488753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71045718..71055631hg38UCSC Ensembl
Outerchr5:71045151..71057041hg38UCSC Ensembl
Innerchr5:70341545..70351458hg19UCSC Ensembl
Outerchr5:70340978..70352868hg19UCSC Ensembl
Innerchr5:70377301..70387214hg18UCSC Ensembl
Outerchr5:70376734..70388624hg18UCSC Ensembl
Innerchr5:70377301..70387214hg17UCSC Ensembl
Outerchr5:70376734..70388624hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3811891
hg1911891
hg1811891
hg1711891
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA18552
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D
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)nssv13666
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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