A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv679n54



Internal ID22768574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:188913906..189120437hg38UCSC Ensembl
chr1:188883037..189089568hg19UCSC Ensembl
chr1:187149660..187356191hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38206532
hg19206532
hg18206532
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv548484, nsv548485
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv679n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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