A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv673089



Internal ID15063055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:19729797..19764306hg38UCSC Ensembl
Innerchr22:19717320..19751829hg19UCSC Ensembl
Innerchr22:18097320..18131829hg18UCSC Ensembl
Innerchr22:18091874..18126383hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3834510
hg1934510
hg1834510
hg1734510
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517478
Supporting Variants
Samples
Known GenesTBX1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv673089
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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