A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4858n54



Internal ID20138282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:1955562..2038584hg38UCSC Ensembl
chr16:2005563..2088585hg19UCSC Ensembl
chr16:1945564..2028586hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3883023
hg1983023
hg1883023
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv571183, nsv571182, nsv571181, nsv571184, nsv571180
SamplesHGDP00433, HGDP00607
Known GenesGFER, NDUFB10, NOXO1, NPW, RNF151, RPS2, SLC9A3R2, SNHG9, SNORA10, SNORA64, SNORA78, SYNGR3, TBL3, ZNF598
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv4858n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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