A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv733n54



Internal ID22768628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196741937..196932623hg38UCSC Ensembl
chr1:196711067..196901753hg19UCSC Ensembl
chr1:194977690..195168376hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38190687
hg19190687
hg18190687
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv548765, nsv548750, nsv548771
Samples
Known GenesCFH, CFHR1, CFHR3, CFHR4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv733n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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