A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5481543



Internal ID259018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:100115389..100115644hg38UCSC Ensembl
chr8:101127617..101127872hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg38256
hg19256
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17016240
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5481543
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