A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588318



Internal ID16375727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21369914..21417759hg38UCSC Ensembl
Innerchr22:21724203..21772048hg19UCSC Ensembl
Innerchr22:20054203..20102048hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3847846
hg1947846
hg1847846
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7996n54
Supporting Variantsnssv951968, nssv951969
Samples
Known GenesHIC2, RIMBP3B, RIMBP3C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588318
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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