A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3590541



Internal ID18542136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18888903..19016425hg38UCSC Ensembl
Innerchr22:18876416..19003938hg19UCSC Ensembl
Innerchr22:17256416..17383938hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38127523
hg19127523
hg18127523
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1059814
Supporting Variants
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)nssv3590541
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