A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4972n54



Internal ID20138396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:28597166..28708113hg38UCSC Ensembl
chr16:28608487..28719434hg19UCSC Ensembl
chr16:28515988..28626935hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38110948
hg19110948
hg18110948
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv571743, nsv571779
Samples
Known GenesEIF3C, SULT1A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv4972n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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