A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519467



Internal ID15100074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:35938213..36000458hg38UCSC Ensembl
Innerchr22:36334261..36396506hg19UCSC Ensembl
Innerchr22:34664207..34726452hg18UCSC Ensembl
Innerchr22:34658761..34721006hg17UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3862246
hg1962246
hg1862246
hg1762246
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv703896, nssv656287, nssv681837, nssv692808, nssv685120
Samples
Known GenesRBFOX2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519467
Frequency
Sample Size2026
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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