A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057571



Internal ID18800102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18888903..19007406hg38UCSC Ensembl
Innerchr22:18876416..18994919hg19UCSC Ensembl
Innerchr22:17256416..17374919hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38118504
hg19118504
hg18118504
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4474n100
Supporting Variantsnssv3590539
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)nsv1057571
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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