A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5433093



Internal ID211820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:111461475..111463571hg38UCSC Ensembl
chr1:112004097..112006193hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg382097
hg192097
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16907667
Samples
Known GenesATP5F1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5433093
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