A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5871315



Internal ID22646252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:224141211..224151780hg38UCSC Ensembl
chr1:224328913..224339482hg19UCSC Ensembl
Cytoband1q42.11
Allele length
AssemblyAllele length
hg3810570
hg1910570
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17354032
Samples
Known GenesFBXO28
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5871315
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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