A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588197



Internal ID16028920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18913491..18988074hg38UCSC Ensembl
Innerchr22:18901004..18975587hg19UCSC Ensembl
Innerchr22:17281004..17355587hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3874584
hg1974584
hg1874584
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7976n54
Supporting Variantsnssv951678, nssv951677
Samples
Known GenesDGCR5, PRODH
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588197
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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