A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588203



Internal ID16375612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18925165..19020595hg38UCSC Ensembl
Innerchr22:18912678..19008108hg19UCSC Ensembl
Innerchr22:17292678..17388108hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3895431
hg1995431
hg1895431
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv951685, nssv1151462
SamplesNINDS_242
Known GenesDGCR5, DGCR9, PRODH
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588203
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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