A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588044



Internal ID16028767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:16368911..16778064hg38UCSC Ensembl
Innerchr22:16849573..17258954hg19UCSC Ensembl
Innerchr22:15229573..15638954hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38409154
hg19409382
hg18409382
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7943n54
Supporting Variantsnssv949475
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)nsv588044
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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