A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459391



Internal ID15172770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18890274..19046019hg38UCSC Ensembl
Innerchr22:18877787..19033532hg19UCSC Ensembl
Innerchr22:17257787..17413532hg18UCSC Ensembl
Innerchr22:17252341..17408086hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38155746
hg19155746
hg18155746
hg17155746
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv543n27
Supporting Variantsnssv536140
Samples1780854430_A
Known GenesDGCR10, DGCR2, DGCR5, DGCR6, DGCR9, PRODH
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv459391
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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