A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9726



Internal ID15500952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:39970546..39972141hg38UCSC Ensembl
Outerchr19:40476453..40478048hg19UCSC Ensembl
Outerchr19:45168293..45169888hg18UCSC Ensembl
Outerchr19:45168293..45169888hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg381596
hg191596
hg181596
hg171596
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv28499
SamplesNA19221
Known GenesPSMC4
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)nsv9726
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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