A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058219



Internal ID18800750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18760915..18992199hg38UCSC Ensembl
Innerchr22:18748428..18979712hg19UCSC Ensembl
Innerchr22:17128428..17359712hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38231285
hg19231285
hg18231285
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4469n100
Supporting Variantsnssv3589366
Samples
Known GenesDGCR5, DGCR6, GGT3P, PRODH
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058219
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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