A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5441743



Internal ID220197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:233588839..233611979hg38UCSC Ensembl
chr1:233724585..233747725hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3823141
hg1923141
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16897904
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5441743
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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