A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059479



Internal ID18802010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18897325..19019471hg38UCSC Ensembl
Innerchr22:18884838..19006984hg19UCSC Ensembl
Innerchr22:17264838..17386984hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38122147
hg19122147
hg18122147
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4473n100
Supporting Variantsnssv3587287, nssv3587280, nssv3587282, nssv3587285, nssv3587286, nssv3587283, nssv3587279, nssv3587278, nssv3587284, nssv3587281, nssv3587288
Samples
Known GenesDGCR5, 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)nsv1059479
Frequency
Sample Size29084
Observed Gain8
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer