A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588622



Internal ID16029345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23579240..23652869hg38UCSC Ensembl
Innerchr22:23921427..23995056hg19UCSC Ensembl
Innerchr22:22251427..22325056hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3873630
hg1973630
hg1873630
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8043n54
Supporting Variantsnssv1151834
SamplesHGDP00473
Known GenesC22orf43, GUSBP11, IGLL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588622
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