A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057770



Internal ID19146989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18888903..18983052hg38UCSC Ensembl
Innerchr22:18876416..18970565hg19UCSC Ensembl
Innerchr22:17256416..17350565hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3894150
hg1994150
hg1894150
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4471n100
Supporting Variantsnssv3590537
Samples
Known GenesDGCR5, DGCR6, PRODH
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057770
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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