A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442503



Internal ID15154536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18822597..19018611hg38UCSC Ensembl
Innerchr22:18810110..19006124hg19UCSC Ensembl
Innerchr22:17190110..17386124hg18UCSC Ensembl
Innerchr22:17184664..17380678hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38196015
hg19196015
hg18196015
hg17196015
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1660643, nssv1660641, nssv1660642
SamplesNA11829, NA10856, NA12006
Known GenesDGCR5, DGCR6, DGCR9, PRODH
MethodSNP array
AnalysisWe used two computational approaches to identify CNVs: the hidden Markov model Birdseye, and an approach based on correlation between nearby probes across a population sample. To maximize the quality of reported findings, we ran duplicate experiments in independent labs, and report the CNVs that were observed in both experiments, in the same samples and at essentially identical genomic locations.
Platform[GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array
Comments
ReferenceMcCarroll_et_al_2008
Pubmed ID18776908
Accession Number(s)nsv442503
Frequency
Sample Size270
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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