A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv690216



Internal ID15080182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:19746288..19815256hg38UCSC Ensembl
Innerchr22:19733811..19802779hg19UCSC Ensembl
Innerchr22:18113811..18182779hg18UCSC Ensembl
Innerchr22:18108365..18177333hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3868969
hg1968969
hg1868969
hg1768969
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517478
Supporting Variants
Samples
Known GenesGNB1L, TBX1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv690216
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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