A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv714n54



Internal ID22768609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:191984545..192071446hg38UCSC Ensembl
chr1:191953675..192040576hg19UCSC Ensembl
chr1:190220298..190307199hg18UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg3886902
hg1986902
hg1886902
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv548645, nsv548646, nsv548647
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv714n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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