A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv681837



Internal ID15071803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:35946342..36000458hg38UCSC Ensembl
Innerchr22:36342390..36396506hg19UCSC Ensembl
Innerchr22:34672336..34726452hg18UCSC Ensembl
Innerchr22:34666890..34721006hg17UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3854117
hg1954117
hg1854117
hg1754117
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519467
Supporting Variants
Samples
Known GenesRBFOX2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv681837
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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