A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv550n54



Internal ID18992726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:143584037..143735154hg38UCSC Ensembl
chr1:149078700..149229805hg19UCSC Ensembl
chr1:147345324..147496429hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38151118
hg19151106
hg18151106
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547781, nsv547792
Samples
Known GenesLOC101929780, NBPF23
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv550n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss4
Observed Complex0
Frequencyn/a


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