A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517478



Internal ID8411753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:19703979..19817740hg38UCSC Ensembl
Innerchr22:19691502..19805263hg19UCSC Ensembl
Innerchr22:18071502..18185263hg18UCSC Ensembl
Innerchr22:18066056..18179817hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38113762
hg19113762
hg18113762
hg17113762
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
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
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
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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