A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv751n54



Internal ID22768646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196826893..196928264hg38UCSC Ensembl
chr1:196796023..196897394hg19UCSC Ensembl
chr1:195062646..195164017hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38101372
hg19101372
hg18101372
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv548835, nsv548834, nsv548832
Samples
Known GenesCFHR1, CFHR4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv751n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer