A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588067



Internal ID16028790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:16416036..16775341hg38UCSC Ensembl
Innerchr22:16896762..17256231hg19UCSC Ensembl
Innerchr22:15276762..15636231hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38359306
hg19359470
hg18359470
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7943n54
Supporting Variantsnssv949501
Samples
Known GenesANKRD62P1-PARP4P3, CCT8L2, TPTEP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588067
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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