A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7822n54



Internal ID20141246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:34073078..34074261hg38UCSC Ensembl
chr21:35445378..35446561hg19UCSC Ensembl
chr21:34367248..34368431hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg381184
hg191184
hg181184
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv587406, nsv587414, nsv587405
Samples
Known GenesMRPS6, SLC5A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7822n54
Frequency
Sample Size17421
Observed Gain9
Observed Loss5
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer