A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5478012



Internal ID255576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:107515272..107527385hg38UCSC Ensembl
chr8:108527500..108539613hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg3812114
hg1912114
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17014430
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5478012
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