A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588049



Internal ID16028772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:16371477..16813361hg38UCSC Ensembl
Innerchr22:16852139..17294251hg19UCSC Ensembl
Innerchr22:15232139..15674251hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38441885
hg19442113
hg18442113
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7943n54
Supporting Variantsnssv949480
Samples
Known GenesANKRD62P1-PARP4P3, CCT8L2, TPTEP1, XKR3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588049
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