A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4975n54



Internal ID22772870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:28598169..28612581hg38UCSC Ensembl
chr16:28609490..28623902hg19UCSC Ensembl
chr16:28516991..28531403hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3814413
hg1914413
hg1814413
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv571751, nsv571750, nsv571752, nsv571753, nsv571754
Samples
Known GenesSULT1A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv4975n54
Frequency
Sample Size17421
Observed Gain14
Observed Loss13
Observed Complex0
Frequencyn/a


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