A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7864n54



Internal ID20141288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42513540..42514553hg38UCSC Ensembl
chr21:43933650..43934663hg19UCSC Ensembl
chr21:42806719..42807732hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381014
hg191014
hg181014
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv587645, nsv587642, nsv587646, nsv587644, nsv587641
Samples
Known GenesSLC37A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7864n54
Frequency
Sample Size17421
Observed Gain20
Observed Loss0
Observed Complex0
Frequencyn/a


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