A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv753n54



Internal ID22768648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196841868..196932623hg38UCSC Ensembl
chr1:196810998..196901753hg19UCSC Ensembl
chr1:195077621..195168376hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3890756
hg1990756
hg1890756
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv548837, nsv548855, nsv548854, nsv548861, nsv548838, nsv548846, nsv548857, nsv548839, nsv548841, nsv548856, nsv548859, nsv548863
SamplesHGDP00894, HGDP01094
Known GenesCFHR4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv753n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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