A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4559n100



Internal ID20156175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:31960163..32072845hg38UCSC Ensembl
chr22:32356150..32468832hg19UCSC Ensembl
chr22:30686150..30798832hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38112683
hg19112683
hg18112683
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1061546, nsv1063876, nsv1055450, nsv1055925
Samples
Known GenesSLC5A1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4559n100
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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