A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459394



Internal ID15519459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18919892..19020595hg38UCSC Ensembl
Innerchr22:18907405..19008108hg19UCSC Ensembl
Innerchr22:17287405..17388108hg18UCSC Ensembl
Innerchr22:17281959..17382662hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38100704
hg19100704
hg18100704
hg17100704
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv542n27
Supporting Variantsnssv536142
SamplesHGDP01418
Known GenesDGCR5, 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)nsv459394
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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