A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv589089



Internal ID16376498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:43274380..43338260hg38UCSC Ensembl
Innerchr22:43670386..43734266hg19UCSC Ensembl
Innerchr22:42000330..42064210hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3863881
hg1963881
hg1863881
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152187
SamplesHGDP00638
Known GenesSCUBE1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv589089
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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