A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536139



Internal ID15156763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18890274..19037868hg38UCSC Ensembl
Innerchr22:18877787..19025381hg19UCSC Ensembl
Innerchr22:17257787..17405381hg18UCSC Ensembl
Innerchr22:17252341..17399935hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38147595
hg19147595
hg18147595
hg17147595
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459390
Supporting Variants
Samples1780862274_A
Known GenesDGCR10, DGCR2, DGCR5, DGCR6, DGCR9, PRODH
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)nssv536139
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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