A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24395



Internal ID15491159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:63437..168972hg38UCSC Ensembl
Outerchr19:62672..177093hg38UCSC Ensembl
Innerchr19:63437..168972hg19UCSC Ensembl
Outerchr19:62672..177093hg19UCSC Ensembl
Innerchr19:14437..119972hg18UCSC Ensembl
Outerchr19:13672..128093hg18UCSC Ensembl
Innerchr19:14437..119972hg17UCSC Ensembl
Outerchr19:13672..128093hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38114422
hg19114422
hg18114422
hg17114422
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9651
Supporting Variants
SamplesNA18853
Known GenesFAM138A, FAM138F, OR4F17, WASH5P
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)nssv24395
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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