A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522281



Internal ID15102888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:133418590..133448519hg38UCSC Ensembl
Innerchr3:133137434..133167363hg19UCSC Ensembl
Innerchr3:134620124..134650053hg18UCSC Ensembl
Innerchr3:134620132..134650061hg17UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3829930
hg1929930
hg1829930
hg1729930
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695064
Samples
Known GenesBFSP2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522281
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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