A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588194



Internal ID16028917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18903102..19029150hg38UCSC Ensembl
Innerchr22:18890615..19016663hg19UCSC Ensembl
Innerchr22:17270615..17396663hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38126049
hg19126049
hg18126049
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7975n54
Supporting Variantsnssv951674
Samples
Known GenesDGCR10, DGCR5, DGCR6, DGCR9, PRODH
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588194
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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