A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv698711



Internal ID15088677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:19747639..19764306hg38UCSC Ensembl
Innerchr22:19735162..19751829hg19UCSC Ensembl
Innerchr22:18115162..18131829hg18UCSC Ensembl
Innerchr22:18109716..18126383hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3816668
hg1916668
hg1816668
hg1716668
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)nssv698711
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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