A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536386



Internal ID15502346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22811561..22920188hg38UCSC Ensembl
Innerchr22:23154058..23262360hg19UCSC Ensembl
Innerchr22:21484058..21592360hg18UCSC Ensembl
Innerchr22:21478612..21586914hg17UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38108628
hg19108303
hg18108303
hg17108303
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459655
Supporting Variants
Samples1780854318_A
Known GenesIGLL5, MIR650
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)nssv536386
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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