A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26658



Internal ID15487182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:163595..163595hg38UCSC Ensembl
Outerchr19:162842..163725hg38UCSC Ensembl
Innerchr19:163595..163595hg19UCSC Ensembl
Outerchr19:162842..163725hg19UCSC Ensembl
Innerchr19:114595..114595hg18UCSC Ensembl
Outerchr19:113842..114725hg18UCSC Ensembl
Innerchr19:114595..114595hg17UCSC Ensembl
Outerchr19:113842..114725hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38884
hg19884
hg18884
hg17884
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9651
Supporting Variants
SamplesNA18504
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)nssv26658
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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