A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27576



Internal ID15839800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:40843207..40885638hg38UCSC Ensembl
Outerchr19:40842883..40886329hg38UCSC Ensembl
Innerchr19:41349112..41391543hg19UCSC Ensembl
Outerchr19:41348788..41392234hg19UCSC Ensembl
Innerchr19:46040952..46083383hg18UCSC Ensembl
Outerchr19:46040628..46084074hg18UCSC Ensembl
Innerchr19:46040952..46083383hg17UCSC Ensembl
Outerchr19:46040628..46084074hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3843447
hg1943447
hg1843447
hg1743447
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9729
Supporting Variants
SamplesNA18972
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)nssv27576
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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