A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv686793



Internal ID15076759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25291547..25512474hg38UCSC Ensembl
Innerchr22:25687514..25908441hg19UCSC Ensembl
Innerchr22:24017514..24238441hg18UCSC Ensembl
Innerchr22:24012068..24232995hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38220928
hg19220928
hg18220928
hg17220928
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)nssv686793
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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