A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4861n54



Internal ID20138285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:2083900..2246850hg38UCSC Ensembl
chr16:2133901..2296851hg19UCSC Ensembl
chr16:2073902..2236852hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38162951
hg19162951
hg18162951
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv571194, nsv571191, nsv571195
Samples
Known GenesBRICD5, CASKIN1, DNASE1L2, E4F1, ECI1, MIR1225, MIR3180-5, MIR4516, MIR6511B-1, MLST8, PGP, PKD1, RAB26, SNORD60, TRAF7, TSC2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv4861n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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