A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv690196



Internal ID15080162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25273614..25513237hg38UCSC Ensembl
Innerchr22:25669581..25909204hg19UCSC Ensembl
Innerchr22:23999581..24239204hg18UCSC Ensembl
Innerchr22:23994135..24233758hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38239624
hg19239624
hg18239624
hg17239624
Variant TypeCNV gain
Copy Number
Allele State
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)nssv690196
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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