A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588060



Internal ID16028783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:16390411..16808228hg38UCSC Ensembl
Innerchr22:16871137..17289118hg19UCSC Ensembl
Innerchr22:15251137..15669118hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38417818
hg19417982
hg18417982
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7943n54
Supporting Variantsnssv949492
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)nsv588060
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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