A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv703n54



Internal ID22768598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:191654563..191967426hg38UCSC Ensembl
chr1:191623693..191936556hg19UCSC Ensembl
chr1:189890316..190203179hg18UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg38312864
hg19312864
hg18312864
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv548592, nsv548593
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv703n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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