A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700518



Internal ID15437170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18066974..18080122hg38UCSC Ensembl
Innerchr22:18549740..18562888hg19UCSC Ensembl
Innerchr22:16929740..16942888hg18UCSC Ensembl
Innerchr22:16924294..16937442hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3813149
hg1913149
hg1813149
hg1713149
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524564
Supporting Variants
Samples
Known GenesPEX26
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700518
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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