A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459398



Internal ID15172777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:19196276..19239752hg38UCSC Ensembl
Innerchr22:19183787..19227275hg19UCSC Ensembl
Innerchr22:17563787..17607275hg18UCSC Ensembl
Innerchr22:17558341..17601829hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3843477
hg1943489
hg1843489
hg1743489
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536145
Samples1780854489_A
Known GenesCLTCL1
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)nsv459398
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