A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv664289



Internal ID15400941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:19873352..19892114hg38UCSC Ensembl
Innerchr22:19860875..19879637hg19UCSC Ensembl
Innerchr22:18240875..18259637hg18UCSC Ensembl
Innerchr22:18235429..18254191hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3818763
hg1918763
hg1818763
hg1718763
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515664
Supporting Variants
Samples
Known GenesTXNRD2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv664289
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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