A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459538



Internal ID15519603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22438063..22488632hg38UCSC Ensembl
Innerchr22:22792400..22842957hg19UCSC Ensembl
Innerchr22:21122400..21172957hg18UCSC Ensembl
Innerchr22:21116954..21167511hg17UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg3850570
hg1950558
hg1850558
hg1750558
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536273
Samples1780854436_A
Known GenesZNF280B
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)nsv459538
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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