A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517478



Internal ID6014437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:19691502..19805263hg19UCSC Ensembl
Innerchr22:18071502..18185263hg18UCSC Ensembl
Innerchr22:18066056..18179817hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv676520, nssv672055, nssv692689, nssv690216, nssv695810, nssv673090, nssv684260, nssv678099, nssv673089, nssv684533, nssv693437, nssv687109, nssv696576, nssv673715, nssv698711, nssv692429, nssv699358, nssv673347, nssv652139
Samples
Known GenesGNB1L, GP1BB, SEPT5, SEPT5-GP1BB, TBX1
Method
AnalysisMerged-level CNV regions
PlatformIllumina HumanHap550 Genotyping BeadChip v3
Comments
ReferenceShaikh et al 2009
Pubmed ID19592680
Accession Number(s)nsv517478
Frequency
Sample Size2026
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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