A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4859n54



Internal ID20138283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:1971892..2264400hg38UCSC Ensembl
chr16:2021893..2314401hg19UCSC Ensembl
chr16:1961894..2254402hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38292509
hg19292509
hg18292509
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv571185, nsv571188
Samples
Known GenesBRICD5, CASKIN1, DNASE1L2, E4F1, ECI1, GFER, MIR1225, MIR3180-5, MIR4516, MIR6511B-1, MLST8, NOXO1, NPW, NTHL1, PGP, PKD1, RAB26, RNPS1, SLC9A3R2, SNORD60, SYNGR3, TBL3, TRAF7, TSC2, ZNF598
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv4859n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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