A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv827n54



Internal ID22768722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:223995897..224016216hg38UCSC Ensembl
chr1:224183599..224203918hg19UCSC Ensembl
chr1:222250222..222270541hg18UCSC Ensembl
Cytoband1q42.11
Allele length
AssemblyAllele length
hg3820320
hg1920320
hg1820320
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv549246, nsv549247, nsv549245, nsv549244
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv827n54
Frequency
Sample Size17421
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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