A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv788n54



Internal ID20134212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:206011717..206016298hg38UCSC Ensembl
chr1:206325070..206329651hg19UCSC Ensembl
chr1:204491693..204496274hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg384582
hg194582
hg184582
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv549063, nsv549065, nsv549064
Samples
Known GenesCTSE
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv788n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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