A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv789n54



Internal ID20134213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:206011717..206014870hg38UCSC Ensembl
chr1:206326498..206329651hg19UCSC Ensembl
chr1:204493121..204496274hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg383154
hg193154
hg183154
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv549066, nsv549067
Samples
Known GenesCTSE
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv789n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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