A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28570



Internal ID15844074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54227037..54228321hg38UCSC Ensembl
Outerchr19:54226155..54229063hg38UCSC Ensembl
Innerchr19:54730910..54732195hg19UCSC Ensembl
Outerchr19:54730028..54732938hg19UCSC Ensembl
Innerchr19:59422722..59424007hg18UCSC Ensembl
Outerchr19:59421840..59424750hg18UCSC Ensembl
Innerchr19:59422722..59424007hg17UCSC Ensembl
Outerchr19:59421840..59424750hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg382909
hg192911
hg182911
hg172911
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9752
Supporting Variants
SamplesNA19221
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)nssv28570
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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