A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv660198



Internal ID15050164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25268441..25513844hg38UCSC Ensembl
Innerchr22:25664408..25909811hg19UCSC Ensembl
Innerchr22:23994408..24239811hg18UCSC Ensembl
Innerchr22:23988962..24234365hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38245404
hg19245404
hg18245404
hg17245404
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517205
Supporting Variants
Samples
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv660198
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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