A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv542n27



Internal ID22767271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:18890274..19020595hg38UCSC Ensembl
chr22:18877787..19008108hg19UCSC Ensembl
chr22:17257787..17388108hg18UCSC Ensembl
chr22:17252341..17382662hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38130322
hg19130322
hg18130322
hg17130322
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv459358, nsv459395, nsv459394, nsv459386
Samples1780862125_A, NINDS_242, 1780862573_A, HGDP01418
Known GenesDGCR5, 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)dgv542n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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