A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459915



Internal ID15519980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:48735380..48755491hg38UCSC Ensembl
Innerchr22:49131192..49151303hg19UCSC Ensembl
Innerchr22:47517198..47537309hg18UCSC Ensembl
Innerchr22:47452055..47472166hg17UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg3820112
hg1920112
hg1820112
hg1720112
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536570
Samples1780862303_A
Known GenesFAM19A5
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)nsv459915
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