A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv33n21



Internal ID22766225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:246533294..246584284hg38UCSC Ensembl
chr1:246696596..246747586hg19UCSC Ensembl
chr1:244763219..244814209hg18UCSC Ensembl
chr1:243022637..243073627hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3850991
hg1950991
hg1850991
hg1750991
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv522963, nsv527464
Samples
Known GenesCNST, TFB2M
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)dgv33n21
Frequency
Sample Size2026
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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