A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv876n54



Internal ID22768771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:242550272..242977797hg38UCSC Ensembl
chr1:242713574..243141099hg19UCSC Ensembl
chr1:240780197..241207722hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38427526
hg19427526
hg18427526
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv549467, nsv549466
SamplesHGDP01215
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv876n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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