A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26630



Internal ID15483878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:43279715..43280579hg38UCSC Ensembl
Outerchr19:43279582..43282697hg38UCSC Ensembl
Innerchr19:43783867..43784731hg19UCSC Ensembl
Outerchr19:43783734..43786849hg19UCSC Ensembl
Innerchr19:48475707..48476571hg18UCSC Ensembl
Outerchr19:48475574..48478689hg18UCSC Ensembl
Innerchr19:48475707..48476571hg17UCSC Ensembl
Outerchr19:48475574..48478689hg17UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg383116
hg193116
hg183116
hg173116
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9730
Supporting Variants
SamplesNA12155
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)nssv26630
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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