A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4473n100



Internal ID20156089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:18888903..19047585hg38UCSC Ensembl
chr22:18876416..19035098hg19UCSC Ensembl
chr22:17256416..17415098hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38158683
hg19158683
hg18158683
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1062878, nsv1060672, nsv1059479, nsv1064452, nsv1060895, nsv1064605
Samples
Known GenesDGCR10, DGCR11, DGCR2, DGCR5, DGCR6, DGCR9, PRODH
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4473n100
Frequency
Sample Size29084
Observed Gain107
Observed Loss39
Observed Complex0
Frequencyn/a


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