A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451424



Internal ID229606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:243497334..243497882hg38UCSC Ensembl
chr1:243660636..243661184hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38549
hg19549
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16899879
Samples
Known GenesAKT3, SDCCAG8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451424
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