A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4981n54



Internal ID22772876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:28603413..28610911hg38UCSC Ensembl
chr16:28614734..28622232hg19UCSC Ensembl
chr16:28522235..28529733hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg387499
hg197499
hg187499
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv571771, nsv571773, nsv571770, nsv571772
Samples
Known GenesSULT1A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv4981n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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