A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv490n223



Internal ID22803458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196746801..196853068hg38UCSC Ensembl
chr1:196715931..196822198hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38106268
hg19106268
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6320589, nsv6324855, nsv6320521, nsv6330824
Samples
Known GenesCFH, CFHR1, CFHR3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv490n223
Frequency
Sample Size19652
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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