A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7943n54



Internal ID20141367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:16368911..16820327hg38UCSC Ensembl
chr22:16849573..17301217hg19UCSC Ensembl
chr22:15229573..15681217hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38451417
hg19451645
hg18451645
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv588063, nsv588050, nsv588051, nsv588046, nsv588060, nsv588064, nsv588067, nsv588045, nsv588068, nsv588054, nsv588047, nsv588048, nsv588044, nsv588066, nsv588065, nsv588061, nsv588056, nsv588049, nsv588069
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)dgv7943n54
Frequency
Sample Size17421
Observed Gain22
Observed Loss0
Observed Complex0
Frequencyn/a


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