A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588068



Internal ID16028791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:16416036..16813361hg38UCSC Ensembl
Innerchr22:16896762..17294251hg19UCSC Ensembl
Innerchr22:15276762..15674251hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38397326
hg19397490
hg18397490
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7943n54
Supporting Variantsnssv949503, nssv949502
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)nsv588068
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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