A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4474n100



Internal ID22790561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:18888903..19052558hg38UCSC Ensembl
chr22:18876416..19040071hg19UCSC Ensembl
chr22:17256416..17420071hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38163656
hg19163656
hg18163656
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1064523, nsv1057571, nsv1056978, nsv1055470, nsv1059814, nsv1063626, nsv1067526
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)dgv4474n100
Frequency
Sample Size11257
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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