A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459450



Internal ID15172829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22213371..22512100hg38UCSC Ensembl
Innerchr22:22567762..22866423hg19UCSC Ensembl
Innerchr22:20897762..21196423hg18UCSC Ensembl
Innerchr22:20892316..21190977hg17UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38298730
hg19298662
hg18298662
hg17298662
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536187
Samples1780862226_A
Known GenesBMS1P20, VPREB1, ZNF280B
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)nsv459450
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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