A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv725n54



Internal ID22768620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:194591333..194677614hg38UCSC Ensembl
chr1:194560463..194646744hg19UCSC Ensembl
chr1:192827086..192913367hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3886282
hg1986282
hg1886282
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv548694, nsv548696
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv725n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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