A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459357



Internal ID15172736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18890274..19009052hg38UCSC Ensembl
Innerchr22:18877787..18996565hg19UCSC Ensembl
Innerchr22:17257787..17376565hg18UCSC Ensembl
Innerchr22:17252341..17371119hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38118779
hg19118779
hg18118779
hg17118779
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv543n27
Supporting Variantsnssv536107
Samples1780862224_A
Known GenesDGCR5, DGCR6, 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)nsv459357
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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