A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7924n54



Internal ID19000100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46169741..46170963hg38UCSC Ensembl
chr21:47589655..47590877hg19UCSC Ensembl
chr21:46414083..46415305hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381223
hg191223
hg181223
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv587961, nsv587960, nsv587962
Samples
Known GenesSPATC1L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7924n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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