A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9729



Internal ID15847641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:40831900..40888502hg38UCSC Ensembl
Outerchr19:41337805..41394407hg19UCSC Ensembl
Outerchr19:46029645..46086247hg18UCSC Ensembl
Outerchr19:46029645..46086247hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3856603
hg1956603
hg1856603
hg1756603
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv27576, nssv24321, nssv25589, nssv25152, nssv23888, nssv25423
SamplesNA18942, NA18975, NA19007, NA18537, NA12740, NA18972
Known GenesCYP2A6, CYP2A7
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)nsv9729
Frequency
Sample Size31
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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