A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv756n54



Internal ID22768651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196884203..196911597hg38UCSC Ensembl
chr1:196853333..196880727hg19UCSC Ensembl
chr1:195119956..195147350hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3827395
hg1927395
hg1827395
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv548869, nsv548867
Samples
Known GenesCFHR4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv756n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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