A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7823n54



Internal ID20141247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:34073078..34074312hg38UCSC Ensembl
chr21:35445378..35446612hg19UCSC Ensembl
chr21:34367248..34368482hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg381235
hg191235
hg181235
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv587404, nsv587407, nsv587416, nsv587412
Samples
Known GenesMRPS6, SLC5A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7823n54
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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