A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16890026



Internal ID167481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:145224587..145274587hg38UCSC Ensembl
chr1:144349471..144397127hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3850001
hg1947657
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5415520
Supporting Variants
Samples
Known GenesLOC100288142, PPIAL4A, PPIAL4B, PPIAL4C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16890026
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00016


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