A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536541



Internal ID15155973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:33710759..33830604hg38UCSC Ensembl
Innerchr22:34106745..34226592hg19UCSC Ensembl
Innerchr22:32436745..32556592hg18UCSC Ensembl
Innerchr22:32431299..32551146hg17UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38119846
hg19119848
hg18119848
hg17119848
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459878
Supporting Variants
Samples1780854481_A
Known GenesLARGE, LARGE-AS1
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)nssv536541
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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