A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25423



Internal ID15834963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:40833131..40887392hg38UCSC Ensembl
Outerchr19:40831900..40888502hg38UCSC Ensembl
Innerchr19:41339036..41393297hg19UCSC Ensembl
Outerchr19:41337805..41394407hg19UCSC Ensembl
Innerchr19:46030876..46085137hg18UCSC Ensembl
Outerchr19:46029645..46086247hg18UCSC Ensembl
Innerchr19:46030876..46085137hg17UCSC 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 StatusS
Merged Variantsnsv9729
Supporting Variants
SamplesNA18537
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)nssv25423
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer