A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5880578



Internal ID22655548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:184002928..184002986hg38UCSC Ensembl
chr1:183972062..183972120hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17357320
Samples
Known GenesCOLGALT2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5880578
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